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PubMed2003

A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan.

Autosomal recessive nonsyndromic deafness is one of the most frequent forms of inherited hearing impairment. Over 30 autosomal recessive nonsyndromic hearing loss loci have been mapped, and 15 genes have been isolated. Of the over 30 reported autosomal recessive nonsyndromic hearing loss (NSHL) loci, the typical phenotype is prelingual non-progressive severe to profound hearing loss with the exception of DFNB8, which displays postlingual onset and DFNB13, which is progressive. In this report we describe a large inbred kindred from a remote area of Pakistan, comprising six generations and segregating autosomal recessive nonsyndromic prelingual deafness. DNA samples from 24 individuals were used for genome wide screen and fine mapping. Linkage analysis indicates that in this family the NSHL locus, (DFNB35) maps to a 17.54 cM region on chromosome 14 flanked by markers D14S57 and D14S59. Examination of haplotypes reveals a region that is homozygous for 11.75 cM spanning between markers D14S588 and D14S59. A maximum two-point LOD score of 5.3 and multipoint LOD score of 7.6 was obtained at marker D14S53. The interval for DFNB35 does not overlap with the regions for DFNA9, DFNA23 or DFNB5.

Chromosome Mapping↗
PubMed2000

A second locus for an axonal form of autosomal recessive Charcot-Marie-Tooth disease maps to chromosome 19q13.3.

Autosomal recessive Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of disorders affecting the peripheral nervous system. The axonal form of the disease is designated as "CMT type 2" (CMT2), and one locus (1q21.2-q21.3) has been reported for the autosomal recessive form. Here we report the results of a genomewide search in an inbred Costa Rican family (CR-1) affected with autosomal recessive CMT2. By analyzing three branches of the family we detected linkage to the 19q13.3 region, and subsequent homozygosity mapping defined shared haplotypes between markers D19S902 and D19S907 in a 5.5-cM range. A maximum two-point LOD score of 9.08 was obtained for marker D19S867, at a recombination fraction of.00, which strongly supports linkage to this locus. The epithelial membrane protein 3 gene, encoding a PMP22 homologous protein and located on 19q13.3, was ruled out as being responsible for this form of CMT. The age at onset of chronic symmetric sensory-motor polyneuropathy was 28-42 years (mean 33.8 years); the electrophysiological data clearly reflect an axonal degenerative process. The phenotype and locus are different from those of demyelinating CMT4F, recently mapped to 19q13.1-13.3; hence, the disease affecting the Costa Rican family constitutes an axonal, autosomal recessive CMT subtype (ARCMT2B).

Adult↗
PubMed1982

Recessive UAA suppressors of the yeast Saccharomyces cerevisiae.

Recessive lysine-independent revertants were isolated from a psi + haploid strain of the yeast Saccharomyces cerevisiae containing one of the leucine-inserting UAA suppressors, SUP29, and various UAA mutations including lys1-1. The majority of the revertants were found to have recessive suppressors in addition to the pre-existing SUP29 mutation. The recessive suppressors were able to suppress only a very limited number of UAA mutations, and none of the UAG mutations thus far examined. The recessive inefficient UAA suppressors were assigned to three complementation groups, sup111, sup112, and sup113. A high incidence of gene conversion was observed for an allele of sup111. An antisuppressor acting on sup111, but not detectably on SUP29, was inadvertently obtained during the course of the study. Interactions between SUP29, sup111 and the antisuppressor asu12 were studied.

Codon↗
PubMed1989

Physical and genetic characterization of a 75-kilobase deletion associated with al, a recessive lethal allele at the mouse agouti locus.

The agouti locus (A) of the mouse determines the timing and type of pigment deposition in the growing hair bulb, and several alleles at this locus are lethal when homozygous. Apparent instances of intragenic recombination and complementation between different recessive lethal alleles have suggested that the locus has a complex structure. We have begun to investigate the molecular basis of agouti gene action and recessive lethality by using a series of genetically linked DNA probes and pulsed field gel electrophoresis to detect structural alterations in radiation-induced agouti mutations. Hybridization probes from the Src and Emv-15 loci do not reveal molecular alterations in DNA corresponding to the ae, ax, and al alleles, but a probe from the parotid secretory protein gene (Psp) detects a 75-kilobase (kb) deletion in DNA containing the non-agouti lethal allele (al). The deletion is defined by a 75-kb reduction in the size of BssHII, NotI, NruI and SacII high molecular weight restriction fragments detected with the Psp probe and is located between 25 kb and 575 kb from Psp coding sequences. Because the genetic distance between A and Emv-15 is much less than A and Psp, there may be a preferred site of recombination close to Psp, or suppression of recombination between A and Emv-15. The al deletion has allowed us to determine the genotype of mice heterozygous for different recessive lethal alleles. We find that three different recessive lethal complementation groups are present at the agouti locus, two of which are contained within the al deletion.

Alleles↗
PubMed1998

Molecular characterization of S locus genes, SLG and SRK, in a pollen-recessive self-incompatibility haplotype of Brassica rapa L.

In Brassica species that exhibit self-incompatibility, two genes, SLG and SRK, at the S locus are involved in the recognition reaction with self and non-self pollen. From a pollen-recessive S29 haplotype of Brassica rapa, both cDNA and genomic DNA clones for these two genes were isolated and characterized. The nucleotide sequence for the S domain of SRK29 showed a high degree of similarity with that of SLG29, and they belong to Class II type. RNA gel blot analysis showed that the transcript of SLG29 consisted of the first and second exons, and no other transcript containing any part of the intron sequence was detected. Because no transmembrane domain was encoded by the second exon of SLG29, SLG29 was designated a secreted type glycoprotein. SLGs of two other pollen-recessive haplotypes, S40 and S44, of B. rapa also had a similar structure to that of SLG29. Previously, SLG2 from a pollen-recessive haplotype, S2, of Brassica oleracea was found to produce two different transcripts, one for the secreted type glycoprotein and the other for a putative membrane-anchored form of SLG. Therefore, the nature of these SLGs from pollen-recessive haplotypes of B. rapa is different from that of SLG2 of B. oleracea.

Amino Acid Sequence↗
PubMed1998

Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.

Amyotrophic lateral sclerosis (ALS) is a progressive motor neurodegeneration resulting in paralysis and death from respiratory failure within 3-5 years. About 20% of familial cases are associated with mutations in the gene for copper/zinc superoxide dismutase ( SOD1 ), which catalyses the dismutation of the superoxide radical to hydrogen peroxide and oxygen. Experimental evidence suggests mutations act by a toxic gain of function but the mechanism is unknown. There are >60 known SOD1 mutations associated with ALS and all are dominant except for one in exon 4, a D90A substitution which is recessive. D90A pedigrees with dominant inheritance have now been reported and this apparent contradiction needs to be explained. We performed a worldwide haplotype study on 28 D90A pedigrees using six highly polymorphic microsatellite markers. We now show that all 20 recessive families share the same founder (alpha = 0.999), regardless of geographical location, whereas several founders exist for the eight dominant families (alpha = 0.385). This finding confirms that D90A can act in a dominant fashion in keeping with all other SOD1 mutations, but that on one occasion, a new instance of this mutation has been recessive. We propose a tightly linked protective factor which modifies the toxic effect of mutant SOD1 in recessive families.

Amino Acid Substitution↗
PubMed2001

Autosomal recessive hypophosphataemic rickets with hypercalciuria is not caused by mutations in the type II renal sodium/phosphate cotransporter gene.

BACKGROUND: At present the genetic defect for autosomal recessive and autosomal dominant hypophosphataemic rickets with hypercalciuria (HHRH) is unknown. Type II sodium/phosphate cotransporter (NPT2) gene is a serious candidate for being the causative gene in either or both autosomal recessive and autosomal dominant HHRH. In the present study we tested this hypothesis in one autosomal recessive family. METHODS: The gene structure of human NPT2 is known. We tested the complete open reading frame in the affected siblings by polymerase chain reaction in combination with automatic DNA sequencing for the presence of mutations. RESULTS: We did not observe disease-causing mutations in the NPT2 gene of the affected siblings. A T855C polymorphism resulting in a histidine to arginine transition was present in the open reading frame of NPT2. The polymorphism was present in both affected as well as unaffected family members. CONCLUSION: The hypothesis that a defect in the NPT2 gene could be an underlying cause for autosomal recessive HHRH could not be sustained in our study.

Adolescent↗
PubMedDate not supplied

Severe chlorotic spot symptoms in cucumber mosaic virus strain Y-infected tobaccos are induced by a combination of the virus coat protein gene and two host recessive genes.

To investigate the genetic determinants of severe chlorotic spot symptoms in cucumber mosaic virus (CMV[Y])-inoculated tobacco (Nicotiana tabacum 'Ky57') leaves, symptom expression was compared among tobaccos (N. tabacum 'Ky57', N. tabacum 'Xanthi nc', and their hybrids) inoculated with CMV(Y), CMV(O), or pseudorecombinants of both strains of CMV. Xanthi nc showed very mild chlorotic spot symptoms in CMV(Y)-inoculated leaves. Both CMV(O)-inoculated Ky57 and Xanthi nc leaves showed no symptoms. In pseudorecombinant-inoculated Ky57 leaves, severe symptoms were determined by chimeric CMV(O) and CMV(Y) RNA3 transcripts, which contained most of the coat protein gene of CMV(Y). Genetic analysis of severe symptom formation in CMV(Y) or pseudorecombinant-inoculated tobaccos indicated that two recessive nuclear-coded host genes determined severe symptom formation in CMV(Y)-inoculated Ky57. The two recessive host genetic loci completely cosegregated with the two recessive burley loci (yb1 and yb2 genes) of Ky57, whose character is an apparent reduction in chlorophyll of the stems. When several cultivars of N. tabacum were inoculated with CMV(Y), all burley tobaccos clearly showed severe symptoms, but most other cultivars showed very mild symptoms. These results suggest that severe chlorotic spot symptom formation in CMV(Y)-inoculated Ky57 is induced by a combination of the virus coat protein gene and two recessive host genes that are closely linked to or identical to yb genes.

Base Sequence↗
PubMed1999

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness.

Since the first identification of an association between mutations in the connexin26 (Cx26) gene and autosomal recessive non-syndromic deafness it has been shown that several mutations in this gene cause recessive, sporadic, and dominant non-syndromic deafness. Three novel mutations in the Cx26 gene were identified in four of 20 Japanese families with autosomal recessive non-syndromic deafness. Seven of 40 chromosomes contained a 233delC allele, while Tyr136Stop (408C-->A) and Gly45Glu (134G-->A) were detected in two of 40 chromosomes, respectively. These mutations were not found in chromosomes in cases of sporadic congenital deafness (0/60) or in control groups (0/100). This indicates that 27.5% (11/40 chromosomes) of cases of autosomal recessive non-syndromic deafness among the Japanese are caused by mutations in the Cx26 gene.

Alleles↗
PubMed2005

Guided tissue regeneration in human gingival recessions. A 10-year follow-up study.

OBJECTIVE: The aim of the present study was to evaluate the changes of the mucogingival complex of guided tissue regeneration (GTR)-treated gingival recession defects over a 10-year follow-up. METHODS: The study population consisted of 20 patients, 11 males and nine females, mean age: 44.3+/-10.4 years, each contributing one recession defect treated with a polytetrafluoroethylene membrane. Eight patients were smokers at the time of surgery and at 10 years post-surgery. Recession depth (RD), probing depth clinical attachment level (CAL), and width of keratinized gingiva (KG) were assessed immediately before surgery, at 6 months, 4 years and 10 years post-surgery. RESULTS: RD was 0.9+/-0.6 mm at 6 months, 1.0+/-1.3 mm at 4 years and 1.3+/-1.6 mm at 10 years. CAL amounted to 1.9+/-1.0 mm at 6 months and shifted to 2.2+/-1.4 and 2.6+/-1.6 mm at 4 years and 10 years, respectively. KG significantly increased following surgery and remained stable thereafter. At 10-year examination, no significant changes from 4-year evaluation were observed. Differences in periodontal parameters between smokers and non-smokers were not statistically significant. CONCLUSION: In conclusion, the results of the present study failed to demonstrate changes over time in the clinical outcome achieved following GTR procedure in gingival recession defects over a period between 4 and 10 years post-surgery.

Adult↗
PubMed1992

Squamous cell carcinoma secondary to recessive dystrophic epidermolysis bullosa. A report of 4 patients with 17 primary cutaneous malignancies.

Four patients with recessive dystrophic epidermolysis bullosa and 17 invasive primary cutaneous squamous cell carcinomas (SCCs) are presented. All skin cancers arose at the site of scarring due to recessive dystrophic epidermolysis bullosa. Three of 17 (18%) primary cutaneous SCCs recurred locally following initial treatment with either surgical excision or wide surgical excision. Patients with recessive dystrophic epidermolysis bullosa are more likely to develop SCCs of the extremities than nonimmunocompromised patients or patients with epidermodysplasia verruciformis. Like patients with epidermodysplasia verruciformis, patients with recessive dystrophic epidermolysis bullosa are likely to suffer from invasive and metastatic SCCs at a much younger age than nonimmunocompromised patients.

Adult↗
PubMedDate not supplied

Darbepoetin alfa and ferric gluconate ameliorate the anemia associated with recessive dystrophic epidermolysis bullosa.

Our objective was to describe the efficacy of darbepoetin alfa and ferric gluconate complex in the treatment of the anemia associated with recessive dystrophic epidermolysis bullosa. To accomplish this aim, we retrospectively reviewed a series of patients with this disease treated in a single institution with darbepoetin alfa and parenteral iron for anemia. Four patients with recessive dystrophic epidermolysis bullosa were treated for a mean length of treatment of 14.5 months (4-18 months). Three patients received parenteral iron in the form of ferric gluconate complex and one received iron dextran. The mean pretreatment hemoglobin was 6.8 g/dL (4.9-9.6 g/dL). All four had improvements in their hemoglobin levels and energy levels with a mean increase in hemoglobin level of 2.8 g/dL (p = 0.003). We found darbepoetin alfa and ferric gluconate complex to be effective in the treatment of anemia associated with recessive dystrophic epidermolysis bullosa and to have distinct advantages over previously described formulations, and we concluded that they should be considered in the supportive care of this disease. We recommend the development of a standardized protocol for the evaluation and management of recessive dystrophic epidermolysis bullosa-associated anemia.

Adolescent↗
PubMed1991

3-year observations on gingival recession in mandibular incisors in children.

28 children aged 6-13 years, with gingival recession localized to mandibular incisors, were monitored longitudinally to evaluate any changes of the labial periodontal tissues. Measurements included dental plaque, gingival inflammation, gingival recession, probing depth, probing attachment level, keratinized and attached gingiva. Following baseline examination, the incisors were observed at yearly intervals over 3 years. The results showed that a high level of oral hygiene was maintained and that gingival inflammation occurred only to a minor degree throughout the observation period. Gradual reductions in the amount of gingival recession and probing attachment levels took place in all children except for 1 of the subjects with 1 severely malpositioned tooth. Probing depths and widths of keratinized and attached gingiva remained relatively unchanged. The finding that gingival recession in mandibular incisors in young children often improves over time suggests that preventive or reparative treatment in this part of the developing dentition may not be necessary. Decisions about such treatment should be postponed until any spontaneous improvement has taken place.

Adolescent↗
PubMed1997

Healing response of gingival recession defects following guided tissue regeneration procedures in smokers and non-smokers.

This retrospective study evaluated healing response in gingival recession defects following guided tissue regeneration (GTR) in smokers. 22 systemically healthy patients who had been treated for deep (> or = 4 mm), buccal, Miller's class I or II gingival recession defects with ePTFE membranes were included. Patients were regarded as smokers if they smoked more than 10 cigarettes/day at the time of surgical procedure. Occasional and former smokers were excluded. 9 patients (6 male, mean age 29 years) were smokers, while 13 patients (4 male, mean age 35 years) were non-smokers. Clinical parameters, recorded presurgery and at 6 months postsurgery, included defect-specific plaque (DP1) and bleeding on probing (BoP) scores, recession depth (RD), probing depth (PD), clinical attachment level (CAL), and keratinized tissue width (KG). Extent of membrane exposure (ME) and newly formed tissue (NFT) gain were assessed at membrane removal. Statistical analysis revealed no significant differences between smokers and non-smokers in demographic and presurgery defect characteristics. DP1 and BoP scores were similar presurgery and remained almost unchanged throughout the observation interval in both groups. ME was significantly greater in smokers (2.6 +/- 1.4 mm) than in non-smokers (1.3 +/- 0.6 mm). NFT gain was 2.8 +/- 1.0 mm in smokers and 3.6 +/- 1.4 mm in non-smokers, the difference being not statistically significant. Smokers showed significantly less RD reduction and root coverage (2.5 +/- 1.2 mm and 57%, respectively) compared to non-smokers (3.6 +/- 1.1 mm and 78%, respectively). In conclusion, the results indicate that treatment outcome following GTR in gingival recession defects is impaired in cigarette smokers.

Adult↗
PubMed1998

Resorbable barrier and envelope flap surgery in the treatment of human gingival recession defects. Case reports.

The present case report evaluates the treatment outcome following mucogingival surgery combined with a bioresorbable barrier in gingival recession defects in humans. A total of 11 buccal, Miller Class I or II, gingival recession defects in 6 patients were consecutively treated. The exposed root surface was ultrasonically scaled and conditioned with a tetracycline HCl solution (10 mg/ml) for 4 min. A buccal full/split thickness envelope flap was then elevated, and a bioresorbable matrix barrier was positioned to completely cover the exposed root surface and surrounding bone margins. A flap was then positioned at or slightly coronal to its original position. In all cases, a variable amount of membrane was intentionally left uncovered on the exposed root surface. Clinical recordings, assessed presurgery and at 6 months postsurgery, included defects-specific plaque and gingival scores, recession depth (RD), probing depth (PD), clinical attachment level (CAL) and keratinized tissue width (KT). Immediately postsurgery, and at weeks 1, 2, 4, 6 and 8 postsurgery, the location of gingival margin or granulation tissue covering the previously exposed root surface was recorded, as well as the extent of barrier exposure. Statistical analysis showed that RD decreased from 2.3+/-0.2 mm presurgery to 0.8+/-0.5 mm at 6 months postsurgery (p=0.001), representing a mean root coverage of 65% (range: 40-100%). CAL gain paralleled RD reduction (1.5+/-0.5 mm; p=0.0009), while KT showed a slight increase (0.3+/-0.6 mm) at 6 months postsurgery. Results indicate that clinical improvement of gingival recession defects may be achieved by means of a barrier-supported envelope technique. The bioresorbable matrix barrier represented an effective scaffold to support the reconstruction of the mucogingival unit.

Adult↗
PubMed2005

Coverage of localized gingival recessions: comparison of micro- and macrosurgical techniques.

BACKGROUND: In the presence of a thin and narrow zone of gingival tissue root recessions caused by trauma or inflammatory reactions seem to be a common feature of the buccal tissue morphology. The surgical coverage is mainly indicated for aesthetic reasons and may be accomplished with pedicled flaps in conjunction with or without the use of connective tissue grafts. AIM: The purpose of the present study was to evaluate the degree of vascularization of connective tissue grafts by applying a microsurgical approach. In addition, the clinical outcome was followed for 1 year. MATERIAL AND METHODS: The study population consisted of 10 patients with bilateral Class I and II recessions at maxillary canines. In split-mouth design, the defects were randomly selected for recession coverage either by a microsurgical (test) or macrosurgical (control) approach. Immediately after the surgical procedures, and after 3 and 7 days of healing, fluorescent angiograms were performed to evaluate graft vascularization. In addition, the clinical parameters were assessed before the surgical intervention, and 1, 3, 6 and 12 months postoperatively. RESULTS: The results of the angiographic evaluation at test sites revealed a vascularization of 8.9+/-1.9% immediately after the procedure. After 3 days and after 7 days, the vascularization rose to 53.3+/-10.5% and 84.8+/-13.5%, respectively. The corresponding vascularization at control sites were 7.95+/-1.8%/44.5+/-5.7% and 64.0+/-12.3%, respectively. All the differences between test and control sites were statistically significant. The clinical measurements revealed a mean recession coverage of 99.4+/-1.7% for the test and 90.8+/-12.1% for the control sites after the first month of healing. Again, this difference was statistically significant. The percentage of root coverage both test and control sites remained stable during the first year at 98% and 90%, respectively. CONCLUSIONS: The present controlled clinical study has demonstrated that in root surface coverage, a microsurgical approach substantially improved the vascularization of the grafts and the percentages of root coverage compared with applying a conventional macroscopic approach.

Adult↗
PubMed2005

Coronally positioned flap procedures with or without a biodegradable membrane in the treatment of human gingival recession. A 6-year follow-up study.

BACKGROUND: Short-term data have indicated that treatment of gingival recession type defects by coronally positioned flap procedures with or without biodegradable membranes may result in similar treatment outcome. The aim of this study was to compare 12-month and 6-year follow-up results for these two treatment approaches. METHODS: Twenty patients with buccal bilateral Miller Class I or Class II gingival recession defects in cuspids or bicuspids were treated randomly by coronally positioned flap alone (20 sites) or in combination with a biodegradable membrane (20 sites). Clinical measurements at baseline, 6, 12 months and 6 years included apical extent of gingival recession, width of the defect at the cemento-enamel junction (CEJ), width of keratinized tissue, as well as attachment level and probing depth. Eleven patients were available for the 6-year evaluation. RESULTS: At 12 months (20 sites), both treatments resulted in significant gain of root coverage (p<0.001), stable probing depth, and increased attachment level (p<0.001). The 6-year evaluation (11 sites) showed a significant gain of root coverage for the non-membrane group only (p<0.05). No significant between-group differences were detected for any other treatment variable regardless of smoking status (p>0.05). Compared with baseline, the 6-year results showed that seven membrane sites gained root coverage, three were unchanged and one lost root coverage. For the 11 non-membrane sites, eight gained root coverage, and three were unchanged. The five membrane and the 10 non-membrane sites exhibiting complete root coverage at 6 months were reduced to two and one, respectively, at the 6-year evaluation. CONCLUSIONS: The coronally positioned flap procedure offers a simple and reliable treatment alternative as a root coverage procedure in Class I and Class II recession type defects. Placement of a biodegradable membrane underneath the flap does not seem to improve neither the short- nor the long-term results. Long-term outcome stability seems to be critically dependent on a continuous follow-up program with re-instruction in non-traumatic brushing habits.

Absorbable Implants↗
PubMed2006

The pattern of inheritance of X-linked traits is not dominant or recessive, just X-linked.

UNLABELLED: Our modern concepts of genetic inheritance originated nearly a century ago. Early concepts of dominant and recessive inheritance were developed in insects and were subsequently applied to sex-linked inheritance in mammals. Years of clinical experience, however, suggest that the modern-day rules for X-linked dominant and recessive diseases do not explain why so many female carriers of X-linked 'recessive' disorders have an abnormal phenotype. In a review of 32 X-linked diseases we revealed an unexpectedly high degree of intermediate disease penetrance in females that cannot be explained by existing concepts. We recommend that the terms 'dominant' and recessive' be abandoned and that these disorders be referred to as X-linked. In this review we will present modified rules for X-linked inheritance and propose hypotheses related to the potential mechanisms that may explain differences in disease expression in females. CONCLUSION: Past assumptions regarding factors that may affect phenotype in heterozygous females do not capture the extraordinarily variable expressivity of X-linked disorders in females and need to be revisited.

Animals↗