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PubMed1994

[Three patients of complicated form of autosomal recessive hereditary spastic paraplegia associated with hypoplasia of the corpus callosum].

We report three patients with slowly progressive spastic paraplegia and dementia; MRI on these patients revealed hypoplasia of the corpus callosum. The mode of inheritance was supposed to be autosomal recessive. Patient 1 (26-year-old man) is an elder brother of patient 2 (21-year-old man). Their parents are first cousins. Patient 3 (woman), a sporadic case, died of pneumonia at the age of 44. Their motor development after the birth was normal, but patient 3 was mildly mentally retarded. Gait disturbance due to spastic paraplegia developed at the age of nine (patient 2), fifteen (patient 1) and nineteen (patient 3), respectively. They also showed slowly progressive mental deterioration. Patient 1 has also suffered from mild amyotrophy and sensory disturbance in the distal part of the extremities since the age of 25. Patient 3 was bed-ridden at the middle of her thirty's because of generalized amyotrophy and sensory disturbance in addition to spastic quadriplegia and profound dementia. Their MRI reveal the thinning of the corpus callosum. We think the thinning must be hypoplasia of the corpus callosum, because the cerebrum showed normal appearance on MRI in patient 1 and patient 2. These clinical findings and imaging studies are essentially similar to those of the cases reported by Iwabuchi et al (1991). We propose autosomal recessive HSP associated hypoplasia of the corpus callosum as a new type of HSP.

Adult↗

PubMed1994

Genetic heterogeneity of severe childhood autosomal recessive muscular dystrophy with adhalin (50 kDa dystrophin-associated glycoprotein) deficiency.

Severe autosomal recessive muscular dystrophy (SCARMD), McKusick n. 253700, has been originally described in North-African populations, in which significant linkage has been established with DNA markers mapping to the proximal region of the long arm of chromosome 13, without evidence for heterogeneity of the SCARMD locus in these populations. A striking feature of this disease is the isolated deficiency of adhalin, a sarcolemmal 50 kDa dystrophin-associated glycoprotein. We report a non-inbred French family with a milder progressive form of muscular dystrophy affecting subjects of both sexes. The parents are not affected suggesting an autosomal recessive transmission. In 4 siblings displaying mild to overt clinical signs of muscular dystrophy, serum creatine kinase was high, and muscle specimens showed variable degree of necrosis-regeneration with little fibrosis. In the 4 cases adhalin was completely absent in muscle sections, whereas dystrophin and the other members of the dystrophin-associated protein complex were normal, except for the 35 kDa dystrophin-associated glycoprotein which was decreased as usually observed in SCARMD. Linkage and homogeneity analysis using 4 microsatellite markers of chromosome 13q that are linked to the North-African SCARMD locus were performed in this family. Results show that the morbid locus involved in this family does not map to the same region as the SCARMD locus. This second locus may be involved in sporadic cases of muscular dystrophy with adhalin deficiency that have been reported in Europe.

Adolescent↗

PubMed1993

[Myotonia congenital (Thomsen) and recessive generalized myotonia (Becker)].

Myotonia congenita (Thomsen's disease) is a muscular disorder with autosomal dominant inheritance. The main symptom is muscle stiffness caused by hyperexcitability of the muscle cell membranes. The disorder is noticeable at birth or in early childhood and is progressive. Muscle hypertrophy is a common sign. Recessive generalized myotonia (Becker) resembles myotonia congenita in many respects, but there are also differences, e.g. later onset and transient muscle weakness experienced by many patients during muscle exertion after rest. The clinical signs usually progress over several years and then remain stable. The decisive criterion for the differential diagnosis of Thomsen or Becker type myotonia is the mode of inheritance. Both disorders are caused by defects of the gene, situated on chromosome 7, that is responsible for the normal functioning of the chloride channels in the muscle cell membranes. The differences between the two types of myotonia are probably caused by different mutations of this gene. The present paper also describes two animal models of myotonia (the myotonic goat and the myotonic mouse), which simulate the dominant and recessive types of human myotonia, respectively. The models have been very helpful in research into the origins of myotonia.

Adolescent↗

PubMedDate not supplied

Pedicle flaps, gingival grafts, and connective tissue grafts in aesthetic treatment of gingival recession.

Gingival recession leading to exposure of crown margins or extensive areas of the tooth root can cause significant aesthetic difficulties. Surgical innovations over the last decade have enabled the periodontist to correct such problems with greater predictability and improved aesthetics. The current surgical procedures for treatment of gingival recession are described and illustrated, and criteria for selection of the appropriate procedure are presented. The learning objective of this article is a review of the surgical procedures and an increased predictability in implementation.

Connective Tissue↗

PubMed1995

The microsatellite mutator phenotype of colon cancer cells is often recessive.

A new mutator mechanism for tumorigenesis, characterized by somatic genomic instability (SGI) at simple repeated sequences (SRS) or microsatellites, underlies hereditary nonpolyposis colorectal cancer (HNPCC) and some sporadic tumors of the colon and other types. To determine whether the microsatellite mutator phenotype (MMP) is dominant or recessive, we generate somatic cell hybrids between a tumor cell line without SGI at SRS (D98OR) and colon carcinoma cell lines with relative low (HCT-15) and high (LS174-T) SGI at SRS. The normal fidelity of replication of these unstable sequences was observed in each of these cell hybrids. Fusion of HCT-15/DLD-1 low instability cells, with LS174-T, HCT116 and LoVo cell lines, all exhibiting relative high instability, also restored the replication fidelity of SRS in all of the hybrids. Hybrids between the high instability cell lines did not grow possibly because of senescence or apoptosis. These results indicate that, in the cell lines analysed, the characterized mutator phenotype of the mismatch repair system resulting in high SGI at SRS, and the uncharacterized mutator phenotype underlying low SGI at SRS, are both recessive. The results also suggest that different tumor cells of the MMP harbor distinct altered growth-related genes.

Colonic Neoplasms↗

PubMed1996

A GLRA1 null mutation in recessive hyperekplexia challenges the functional role of glycine receptors.

Dominant missense mutations in the human glycine receptor (GlyR) alpha 1 subunit gene (GLRA1) give rise to hereditary hyperekplexia. These mutations impair agonist affinities and change conductance states of expressed mutant channels, resulting in a partial loss of function. In a recessive case of hyperekplexia, we found a deletion of exons 1-6 of the GLRA1 gene. Born to consanguineous parents, the affected child is homozygous for this GLRA1(null) allele consistent with a complete loss of gene function. The child displayed exaggerated startle responses and pronounced head-retraction jerks reflecting a disinhibition of vestigial brain-stem reflexes. In contrast, proprio- and exteroceptive inhibition of muscle activity previously correlated to glycinergic mechanisms were not affected. This case demonstrates that, in contrast to the lethal effect of a null allele in the recessive mouse mutant oscillator (Glra1 spd-ot), the loss of the GlyR alpha 1 subunit is effectively compensated in man.

Alleles↗

PubMed1996

Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa.

Collagen type VII gene (COL7A1) has been demonstrated to be altered in several variants of dystrophic epidermolysis bullosa (DEB), with either recessive or dominant mode of inheritance. We have identified two mutations in a patient affected by a localisata variant of recessive DEB (L-RDEB), which is characterized by the less severe phenotype of the syndrome. These mutations are the first splicing mutations so far described for COL7A1 in DEB. One mutation is a paternally inherited A-->G transition at position -2 of the donor splicing site of intron 3, which results in three aberrant mRNAs, depending on the skipping of exon 3, the usage of a cryptic donor site inside exon 3, or the maintenance of intron 3. The second mutation is a maternally inherited G-->A transition at position -1 of the donor splicing site of intron 95, which induces the activation of a cryptic donor site 7 nt upstream the normal site and gives rise to a deleted mRNA, in addition to the normal one. All aberrant mRNAs show a shift of the reading frame, thus generating premature termination codons of translation. Allele-specific analysis of the transcripts has shown that the maternal mutation does not completely abolish the correct splicing of COLVII pre-mRNA, thus allowing, in the patient, the synthesis of a certain level of a functional protein. This result is compatible with the mild clinical L-RDEB phenotype observed in our patient.

Adolescent↗

PubMed1996

An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds.

Autosomal recessive nonsyndromic hearing loss (ARNSHL) is the most common form of severe inherited childhood deafness. We present the linkage analysis of two inbred Bedouin kindreds from Israel that are affected with ARNSHL. A rapid genomewide screen for markers linked to the disease was performed by using pooled DNA samples. This screen revealed evidence for linkage with markers D9S922 and D9S301 on chromosome 9q. Genotyping of individuals from both kindreds confirmed linkage to chromosome 9q and a maximum combined LOD score of 26.2 (recombination fraction [theta] .025) with marker D9S927. The disease locus was mapped to a 1.6-cM region of chromosome 9ql3-q2l, between markers D9S15 and D9S927. The disease segregates with a common haplotype in the two kindreds, at markers D9S927, D9S175, and D9S284 in the linked interval, supporting the hypothesis that both kindreds inherited the deafness gene from a common ancestor. Although this nonsyndromic-hearing-loss (NSHL) locus maps to the same cytogenetic interval as DFNB7, it does not overlap the currently defined DFNB7 interval and may represent (1) a novel form of NSHL in close proximity to DFNB7 or (2) a relocalization of the DFNB7 interval to a region telomeric to its reported location. This study further demonstrates that DNA pooling is an effective means of quickly identifying regions of linkage in inbred families with heterogeneous autosomal recessive disorders.

Arabs↗

PubMed1995

A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome?

A nine-month-old boy with microcephaly, cataracts, intracerebral calcifications and dysmorphic signs: an additional observation of an autosomal recessive congenital infection-like syndrome?: We present a nine-month-old boy with microcephaly, cataracts, intracerebral calcification, dysmorphic facial signs, and a clinical course resembling a congenital intrauterine infection. The serological screening for connatal infections repeatedly was negative. Patients with congenital infection-like syndrome previously described showed similar clinical features. The recurrence of the disease in sibships suggests autosomal recessive inheritance. We add a possibly new patient with this condition, review the literature, and demonstrate the difficulties in making the diagnosis of an infection-like syndrome in a single patient.

Abnormalities, Multiple↗

PubMed1995

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome.

Autosomal recessive mode of inheritance of a Coffin-Siris like syndrome: Coffin-Siris syndrome is a rare mental retardation/multiple congenital anomalies syndrome; so far its pattern of inheritance is under debate. We report a child affected by this syndrome, the pedigree of which is consistent with autosomal recessive inheritance.

Abnormalities, Multiple↗

PubMed1977

Autosomal recessive hypohidrotic ectodermal dysplasia with subclinical manifestation in the heterozygote.

Sweat pores on the epidermal ridges are hypoplastic and reduced in number in three sisters affected with autosomal recessive hypohidrotic dysplasia. The heterozygote state is expressed by a reduced number of qualitatively normal sweat pores (14.07 +/- 8.59 as compared to 22.27 +/- 2.33 in controls). Clinical and genetic considerations suggest that this may be a distinct type that has to be differentiated from other autosomal recessive hypohidrotic ectodermal dysplasias. Heterozygote manifestation may contribute to delineate this groups of disorders further.

Adolescent↗

PubMed1996

Autosomal recessive disorders in Saguenay-Lac-St-Jean, Quebec: study of kinship.

Saguenay-Lac-St-Jean is a geographically isolated region of northeastern Quebec in which several autosomal recessive disorders have a high incidence. The kinship coefficients of all possible pairs of 567 probands were calculated and compared with those of 1701 matched control individuals. The mean kinship coefficient of the group containing all 567 probands was 5.57 times higher than that of the control group (0.000981 versus 0.000176). Overall, 45.5% of the probands were third-degree cousins, compared with 32.9% of the control group. However, in each disorder only a few probands were traced back to the most represented founder couple in Saguenay-Lac-St-Jean. Molecular data added a new dimension to the concept of kinship by showing that at least in the study area, closely related individuals do not necessarily carry identical mutations, which, in turn, may have a great impact on carrier screening. Our results strongly suggest that the high incidence of autosomal recessive disorders in Saguenay-Lac-St-Jean is the result of a founder effect.

Case-Control Studies↗

PubMed1996

[Autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF)--clinical characteristics].

Among heterogeneous diseases manifested by parkinsonism beginning early in life, there is a disease presenting with marked diurnal fluctuation of symptoms, called autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF). To identify the characteristics of this condition as a disease entity, we examined the clinical manifestations of AR-EPDF patients (Group I, n = 42) in comparison with those of early-onset parkinsonism patients without diurnal fluctuation (Group II, n = 34). Family history suggesting autosomal recessive inheritance was noted in 85.7% of Group I patients and 17.6% of Group II. The male-to-female ratio was 1: 1.8 in Group I, and 1:0.89 in Group II. Age at onset showed a standard distribution with an average of 25.6 years (SD: +/- 7.7) in Group I and an average of 32.7 with an increasing pattern toward 40 years in Group II. The initial symptom was dystonic gait disturbance in 42.9% of Group I and 5.9% of Group II, parkinsonian gait in 19.9% of Group I and 2.9% of Group II, and tremor in 28.6% of Group I and 41.2% of Group II. The main clinical feature was parkinsonism in both groups. Diurnal fluctuation of parkinsonism was remarkable in all but one (97.6%) of Group I, while it was not observed in Group II. Dystonic postures were noted in 79.4% of Group I and in 37.1% of Group II; hyperactive tendon reflexes in 74.3% of Group I patients and in 20% of Group II. Autonomic symptoms were mild in both groups. None of the Group I patients had dementia while two of Group II did. Levodopa was markedly effective in both groups. Dopa-induced dyskinesia was observed in 96.8% of Group I and in 61.8% of Group II. As for progression of the disease, the Hoehn-Yahr stage of patients on medication was evaluated as 2.2 +/- 0.7 (mean +/- SD) in Group I and 3.1 +/- 1.1 in Group II for a period of 10 to 20 years of onset, 2.5 +/- 0.8 in Group I and 3.3 +/- 0.5 in Group II for 20 to 30 years, and 3.2 +/- 0.9 in Group I and 4.3 +/- 0.6 in Group II after 30 years. There were significant differences between the two groups in the frequency of positive family history, in the mean and distribution of age at onset, in the incidence of dystonic gait as the initial symptom, and in the incidences and medians of the variables including dystonia, hyperreflexia and dopa-induced dyskinesia, as well as in the progression of the disease. Thus, we have successfully characterized the clinical features of AR-EPDF and demonstrated that diurnal fluctuation is a cardinal symptom of this disease. Reported pathologic studies on AR-EPDF showed the nigral lesion characterized by non-Lewy body type degeneration and the occurrence of melanin-poor neurons. These pathologic findings as well as the clinical manifestations differentiate AR-EPDF from Parkinson's disease and from autosomal-dominant familial parkinsonism. Low melanin-content of the nigral neurons is also a striking feature of hereditary progressive dystonia with diurnal fluctuation, in which unlike AR-EPDF there is no neuronal loss in the substantia nigra.

Adult↗

PubMedDate not supplied

Utilization of a resorbable collagen membrane in repairing gingival recession defects.

Predictable coverage of exposed root surfaces and the corresponding treatment of gingival recession defects remain important objectives of periodontal therapy. A variety of techniques have been developed during the past several decades to address this common clinical challenge. Traditional surgical approaches have been relatively successful in achieving root coverage. Attempts have been made recently to achieve root coverage with surgical techniques based on the principles of guided tissue regeneration, using resorbable and nonresorbable materials. The learning objective of this article is to present case documentations of root coverage, using a resorbable collagen barrier. The results achieved illustrate the potential of this material in the treatment of gingival recession. The biologic properties of collagen as a barrier material, the surgical approach, and the principles of case selection are reviewed.

Adult↗

PubMed1996

A single-step GTR treatment for gingival recession with a bioresorbable membrane: a case report.

Creating a single-step surgical treatment for coverage of gingival recession has long been the objective in the development of guided tissue regeneration. A single-step procedure would avoid the trauma of a second surgery and eliminate the limitations associated with soft tissue grafts and nonresorbable barriers. It would also ensure the predictable integration of the bioresorbable membrane in the periodontal tissue and the clinical repair of gingival recession. The learning objective of this article is to present the clinical application of a bioresorbable matrix along with the indications and advantages of the procedure. Three case reports are used to illustrate the clinical technique.

Biodegradation, Environmental↗

PubMed1996

X-linked recessive myotubular myopathy proven by muscle biopsy.

We report a baby boy, the third child of a nonconsanguineous couple, with congenital myotubular myopathy. At birth, he had generalized hypotonia and respiratory distress. On physical examination, an elongated apathetic face, high-arched palate, bilateral ptosis, funnel chest, frog-leg posture, little spontaneous movement of the limbs and areflexia were observed. A chest x-ray revealed thin ribs and clavicles. The infant died 54 days after birth despite intensive management. The mother, a healthy 32-year-old female, displayed myotubes on muscle biopsy which suggested an X-linked recessive inheritance pattern for myotubular myopathy. This report illustrates the importance of taking a detailed family history as well as a muscle biopsy in the diagnosis of X-linked recessive myotubular myopathy.

Biopsy↗

PubMed1996

Guided tissue regeneration with a resorbable barrier membrane (Vicryl) for the management of buccal recession: a case report.

Six patients with buccal gingival recession (4 to 6 mm) were treated by means of the guided tissue regeneration technique utilizing a polyglycolactic membrane (Vicryl). Three months following the first surgical procedure, all sites were reentered to evaluate newly formed tissue above the exposed root. Complete root coverage was obtained in four out of six patients; 0.5 and 1.5 mm of recession were still present in the remaining two.

Biocompatible Materials↗

PubMed1997

New autosomal-recessive syndrome of Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, and metabolic acidosis.

We report on a new autosomal-recessive syndrome in 4 Japanese children in 2 families. The key manifestations are Leber congenital amaurosis, short stature, growth hormone insufficiency, mental retardation, hepatic dysfunction, metabolic acidosis, and autosomal-recessive inheritance. There were no consanguineous marriages. Abnormal eye movements were noticed neonatally, and ophthalmological examinations showed no visual acuity, pigmentary retinal degeneration, and nonrecordable electroretinograms in all cases. Inadequate weight gain and short stature gradually became apparent after birth, and at present the height range is -4.6 - -7.2 SD (standard deviations). Developmental delay was noted at age 4 months, and the developmental quotient is 50-70 at present. Deterioration of development and convulsions were not recognized. Elevated serum aminotransferase levels and metabolic acidosis were also found at age 4 months. Proximal renal tubular acidosis was clarified by bicarbonate tolerance tests in 1 case, and may have caused metabolic acidosis. Growth hormone secretion was insufficient by insulin tolerance test in 3 cases. One year of growth hormone therapy in 2 cases did not affect growth velocity. Hepatic dysfunction and metabolic acidosis ameliorated later. No renal cysts were found. A cranial computed tomographic scan and magnetic resonance imaging showed normal findings. Amino acids, organic acids, and very long chain fatty acid levels in plasma were all normal in the 3 cases examined. Histopathological and mitochondrial DNA analyses showed no evidence of mitochondrial disorders.

Acidosis↗