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PubMed1982

Abnormalities in collagenase expression as in vitro markers for recessive dystrophic epidermolysis bullosa.

In order to correlate a characteristic clinical phenotype with biochemical abnormalities in recessive dystrophic epidermolysis bullosa, fibroblast cultures were established from 4 typical patients with the severe form of the disease. Collagenase, the enzyme implicated in the pathogenesis of blistering, was present in vitro in 2- to 4-fold greater concentrations than in control fibroblast cultures. Partially purified preparations of this enzyme displayed marked thermal lability and diminished affinity for Ca2+, a metal cofactor, suggesting the existence of a mutant enzyme. The data suggest that these 3 biochemical abnormalities, increased synthesis, decreased thermal stability and diminished affinity for Ca2+, should serve as reliable in vitro markers for genetic discrimination of recessive dystrophic epidermolysis bullosa.

Cells, Cultured↗
PubMed1981

X-linked recessive ichthyosis in three sisters: evidence for homozygosity.

A family with ichthyosis, severely affecting both men and women, is reported. The clinical, histological and genetic data are strongly suggestive of X-linked recessive ichthyosis. Assay of steroid sulphatase in cultured skin fibroblasts from two ichthyotic female patients revealed an absence of this enzyme and thus confirmed this diagnosis. To our knowledge, this is the first report of proven X-linked recessive ichthyosis in women.

Adult↗
PubMed1996

First trimester DNA-based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling.

A 28-year-old woman, who previously had had a child affected with the hereditary blistering skin disorder, recessive dystrophic epidermolysis bullosa, presented at 7 weeks' gestation for prenatal diagnosis. Genomic DNA, obtained from her, her husband (who is a first cousin), their unaffected child, and their previously affected child, was used to screen all 118 exons of the type VII collagen gene (COL7A1) by polymerase chain reaction (PCR) amplification followed by heteroduplex analysis of the PCR products. Established common polymorphisms within the NC-1 region of COL7A1 were informative for both the normal maternal and paternal alleles. In addition, a putative homozygous mutation, a G to C transversion at nucleotide position 7708, was identified in the affected child. This substitution converts a glycine residue (GGT) within the Gly-X-Y region of the type VII collagen triple helix into an arginine residue (CGT), and leads to the creation of a new MnlI restriction site. Both parents and the healthy sibling were shown to be clinically normal heterozygous carriers of this mutation. A chorionic villus biopsy was performed at 10 weeks' gestation and DNA was extracted from the villi. Assessment of informative intragenic markers, and the putative mutation, revealed that the fetus had inherited both the normal maternal and paternal COL7A1 alleles. Thus, first trimester DNA-based prenatal diagnosis predicts that this child is neither affected with recessive dystrophic epidermolysis bullosa, nor is an unaffected carrier of this genodermatosis.

Base Sequence↗
PubMed2004

Autosomal recessive hypercholesterolaemia: normalization of plasma LDL cholesterol by ezetimibe in combination with statin treatment.

BACKGROUND: Severe hereditary hypercholesterolaemia is most frequently due to familial hypercholesterolaemia (FH), caused by mutations in the LDL receptor (LDLR) gene. However, a phenotype very similar to FH may also be caused by defects in other genes like the genes for apolipoprotein (apo) B-100 or autosomal recessive hypercholesterolaemia (ARH). SUBJECT: An 8-year-old male of Lebanese origin was diagnosed with severe hypercholesterolaemia and extensive cutaneous and tendon xanthomas. Plasma LDL cholesterol before treatment was 17 mmol L(-1), whilst parents and both siblings had normal levels. DIAGNOSIS: Degradation of (125)I-labelled LDL in blood lymphocytes was reduced, but not abolished. Sequencing analysis of the LDLR and apoB-100 genes were negative, whilst a splice acceptor mutation in intron 1 (IVS 1 -1G>C) was detected in the ARH gene. The patient was homozygous for the mutation, whilst the parents were heterozygous. These findings were in agreement with a diagnosis of ARH. TREATMENT AND CLINICAL COURSE: Monthly LDL apheresis and atorvastatin 120 mg daily reduced LDL cholesterol preapheresis level to 4.8 mmol L(-1). When ezetimibe was given 10 mg day(-1) in combination with rosuvastatin 80 mg day(-1), LDL cholesterol was further lowered to 1.6 mmol L(-1), which made apheresis unnecessary. Cutaneous and tendon xanthomas disappeared completely and the intima-media thickness of the common carotid arteries decreased. At age 23 he developed a small myocardial infarction. CONCLUSION: ARH should be considered in cases of severe hypercholesterolaemia with a pattern of recessive inheritance. Combination therapy with high-dose statin and ezetimibe seems to be the treatment of choice in ARH and may reduce or eliminate the need for LDL apheresis treatment.

Adult↗
PubMed1994

Male with type II autosomal recessive cutis laxa.

A 5-year-old boy, who had pre- and postnatal growth retardation, delayed motor development, cutis laxa, delayed closure of large fontanels, congenital hip dislocation and characteristic facies, is described. Disorders with cutis laxa are now divided into five types. The patient had clinical manifestations very similar to those of cutis laxa with bone dystrophy (type II autosomal recessive cutis laxa). Eighteen patients have been reported, the ratio of males to females being 5 to 14. This is the fifth case of this disorder occurring in a male, which provides further evidence for autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1984

Tay-Sachs disease and the role of reproductive compensation in the maintenance of ethnic variations in the incidence of autosomal recessive disease.

Several deleterious and lethal autosomal recessive genes appear to exist in equilibrium with their normal alleles at a variety of stable, or near stable frequencies of considerable antiquity. One person in 25 is, for instance, a carrier of the Tay-Sachs gene among Ashkenazi Jews, compared with 1 in 300 among Sephardic and Oriental Jews and non-Jews. The explanations offered for this phenomenon have generally not been entirely satisfactory. It has been shown that parents replace fortuitous infant and childhood deaths with, on average, approximately two surviving sibs each. When mutation rates are low, this practice, which has also been shown to occur among other animals, can maintain considerable variations in the stable incidence of autosomal recessive disease, should such ethnic polymorphism arise through genetic drift, the founder effect or hitch-hiking. High mutation rates would appear to preclude ethnic variations in the stable incidence of genetic disease.

Child↗
PubMed2004

Autosomal recessive hypercholesterolemia in three sisters with phenotypic homozygous familial hypercholesterolemia: diagnostic and therapeutic procedures.

Familial hypercholesterolemia is an autosomal-dominant inherited disorder caused by mutations in the low-density lipoprotein (LDL) receptor gene. The homozygous form is characterized by high-serum LDL cholesterol concentrations, xanthoma formation and premature atherosclerosis. Recently, another molecular defect that also results in severely elevated LDL cholesterol levels was identified: autosomal recessive hypercholesterolemia. This inherited disorder is caused by a mutation in a putative LDL receptor adaptor protein. In our lipid clinic, three sisters with phenotypic homozygous hypercholesterolemia were recently diagnosed as having autosomal recessive hypercholesterolemia. They presented in 1990 with massive tuberous xanthomas at the knees, thighs, elbows and buttocks. LDL receptor and apolipoprotein B gene defects were excluded through mutation analysis. From 1992 onward they underwent LDL-apheresis on a weekly basis. To date the clinical outcome is very satisfying with no evidence of coronary heart disease or aortic valve lesions and almost complete regression of xanthomatosis.

Adolescent↗
PubMedDate not supplied

Correction of patellar luxation by recession sulcoplasty in three foals.

Lateral luxation of the patella in four femoropatellar joints of three foals was repaired by recession sulcoplasty and medial imbrication of the joint. One foal was euthanatized because of septic arthritis caused by incisional dehiscence, and the other two foals were normal 2 years after surgery. Recession sulcoplasty combined with medial imbrication of the joint capsule resulted in a functional femoropatellar joint and should be considered in foals affected with lateral patellar luxation.

Animals↗
PubMed1992

Mitten deformity in severe generalized recessive dystrophic epidermolysis bullosa: histological, immunofluorescence, and ultrastructural study.

Light and electron microscopy and indirect immunofluorescence techniques were used to study the nature of the mitten deformity in five adult patients with severe generalized recessive dystrophic epidermolysis bullosa undergoing release of hand and finger contractures. Although the mitten appeared largely to be clinically separated from the underlying fixed digits, histology showed mostly normal keratinocytes beneath a thickened stratum corneum. The lower margin of the mitten was formed just below the lamina densa of the basement membrane, at a level similar to that of the usual blister formation in this condition. No anchoring fibrils and only a few distinct dermal structures were noted. A substantial portion of the mitten, however, consisted of necrotic keratinocytes without an intact basement membrane. This finding suggests that the mitten is not suitable for use as an epidermal autograft and confirms the rationale for taking split thickness skin grafts to close skin defects in patients with recessive dystrophic epidermolysis bullosa undergoing plastic surgery.

Adult↗
PubMedDate not supplied

Basic concepts for the linear model of ground water level recession.

Basic concepts are illustrated for the display of ground water level recession as a linear plot on a semilog graph, as first described by Rorabaugh. This exponential decay function can be achieved if there is a definable outflow boundary such as a lake or river and if water levels are expressed relative to the altitude of the boundary. The model can be used to estimate aquifer hydraulic diffusivity. Concepts are illustrated using three finite-difference simulations. One represents the ideal case as described by Rorabaugh, in which the altitude of the outflow boundary is uniform along its length. Another simulation includes a sloping boundary with simple geometry and demonstrates that the model can be used accurately. Based on this simulation, it appears that the ground water level must be expressed relative to the closest point on the outflow boundary. The third simulation includes a sloping boundary and complex boundary shape, and demonstrates departures from the linear model of recession and errors in the estimate of hydraulic diffusivity. Another cause of nonlinearity is the instability of the ground water head profile soon after a recharge event. The nature of these early-time departures will vary depending on the location of the water level observation site relative to the outflow boundary and the hydrologic divide of the ground water flow system.

Fresh Water↗
PubMed1992

Dominant and recessive molecular changes in neuroblastomas.

Of all human tumors, neuroblastomas bear the most prominent genetic changes. Amplifications and deletions of chromosomal DNA can be identified by light microscopy on chromosomal spreads of neuroblastoma cells with remarkable frequency and consistency. Consequently, extensive studies have been undertaken to elucidate the molecular basis of these cytogenetic changes. A rich body of information has accumulated on the role played by dominant oncogenes and recessive tumor suppressor genes in the pathogenesis of this disease. Most notably, it was found that amplification of N-myc is responsible for the presence of double minutes and homogeneously staining regions in neuroblastoma chromosomes. It has also been discovered that N-myc amplification is a prognostic sign of malignancy. More recently, recessive genetic alterations in neuroblastoma, such as deletion of putative tumor-suppressing genes have received increasing attention, and considerable efforts are being made to identify such genetic elements. Finally, the susceptibility of neuroblastoma cells to differentiating stimuli has made them a popular in vitro system for neurobiological and pharmacological research. The need for suitable in vivo systems has spurred the development of several animal models employing tumor viruses and transgenic technologies.

Amino Acid Sequence↗
PubMed2006

[D-Trp8]-gamma-melanocyte-stimulating hormone exhibits anti-inflammatory efficacy in mice bearing a nonfunctional MC1R (recessive yellow e/e mouse).

Two melanocortin receptors (MC1 and MC3R) have been identified as main transducers of the anti-inflammatory effects of natural and synthetic melanocortins. In this study, we have taken advantage of the recent description of the selective MC3R agonist [d-Trp(8)]-gamma-melanocyte-stimulating hormone (MSH) and of the recessive yellow (e/e) mouse, bearing a nonfunctional MC1R, thereby incrementing our knowledge on this topic. Culturing peritoneal macrophages of recessive yellow (e/e) mice with [d-Trp(8)]-gamma-MSH led to accumulation of cAMP, indicating MC3R receptor functionality: this effect was blocked by a neutralizing antibody against MC3R. Likewise, release of the chemokine KC by urate crystals was attenuated by [d-Trp(8)]-gamma-MSH, and this effect was prevented by synthetic [Ac-Nle(4)-c[Asp(5)-2'-Nal(7),Lys(10)]alpha-MSH(4-10)-NH(2) (SHU9119)] and natural [agouti-related protein (AGRP)] MC3R antagonists but not by the MC4R antagonist Ac-Cys-Nle-Arg-His-d-2-Nal-Arg-Trp-Cys-NH(2) (HS024). Systemic treatment of mice with [d-Trp(8)]-gamma-MSH inhibited KC release and polymorphonuclear cell accumulation elicited by urate crystals in the murine peritoneal cavity. SHU9119 and AGRP prevented the inhibitory actions of [d-Trp(8)]-gamma-MSH, whereas HS024 was inactive. We also demonstrate here that [d-Trp(8)]-gamma-MSH displays a dual mechanism of action by inducing the anti-inflammatory protein heme-oxygenase 1 (HO-1). Treatment with the HO-1 inhibitor zinc protoporphyrin IX exacerbated the inflammatory response elicited by urate crystals and abrogated the anti-inflammatory effects of [d-Trp(8)]-gamma-MSH. In conclusion, these data support the development of the selective MC3R agonist [d-Trp(8)]-gamma-MSH for the treatment of inflammatory pathologies, based on a dual mechanism of cytokine/chemokine inhibition and induction of the anti-inflammatory protein HO-1.

Animals↗
PubMed1983

Recessive mutations conferring resistance to carbon catabolite repression of galactokinase synthesis in Saccharomyces cerevisiae.

A total of 37 recessive mutations showing enhanced resistance to the glucose repression of galactokinase synthesis have been isolated by a selection procedure with a GAL81 gal7 double mutant. These mutations were grouped into three different complementation classes. One class, reg1, contains mutants arising from mutations at a site close to, but complementing, the gal3 locus. The reg1 mutant also showed resistance to the glucose repression of invertase synthesis but not to that of alpha-D-glucosidase. The two other classes were identified as arising from recessive mutations at the GAL82 locus and the GAL83 locus, respectively, at which various dominant mutations were isolated previously. When in a constitutive background due to the GAL81 or gal80 mutation, the GAL82 and GAL83 mutations did not show a mutually additive effect on the resistance to glucose repression of galactokinase synthesis, while the reg1 and GAL82 (or GAL83) mutations did. Based upon the specific behavior of cells with various genotypes for the above genes in response to the concentration of galactose and glucose in the medium, we propose a model involving three independent circuits for glucose signals in the regulation of the structural genes for the galactose pathway enzymes.

Drug Resistance, Microbial↗
PubMed1993

Cerebral aspergilloma in a child with autosomal recessive chronic granulomatous disease.

A 2 year old girl presented with epilepsy 16 months after being diagnosed as having autosomal recessive chronic granulomatous disease. Computed tomography showed a cerebral mass which was surgically removed and proved histologically to be an aspergilloma. This case illustrates the application of molecular diagnostic techniques to the diagnosis of chronic granulomatous disease. The occurrence of, and unusual reaction to, cerebral aspergillus infection indicates the need to consider this possibility in the differential diagnosis of mass lesions in chronic granulomatous disease. Furthermore, it is clear that autosomal recessive chronic granulomatous disease cannot be considered to be a clinically mild form that is exempt from major neurological complications.

Aspergillosis↗
PubMed1985

Large bimedial rectus recessions in congenital esotropia.

The success rate of large (6 and 7 mm) bimedial rectus recessions in 45 congenital esotropes with deviations of 50 prism dioptres or greater was found to be 91%. Judgment of final alignment was made six weeks postoperatively, with an average follow-up of 13 months. Large bimedial rectus recessions are an effective surgical treatment for congenital esotropia. This procedure does not significantly alter adduction, and leaves other muscles available should further surgery be necessary. These findings show that initial surgery on three or more muscles is unnecessary in congenital esotropia.

Adolescent↗
PubMed1994

8 mm bimedial rectus recession in infantile esotropia of 80-90 prism dioptres.

Sixteen patients with large angle infantile esotropia with deviations of 80-90 prism dioptres were operated at the age of about 2 years. All patients underwent 8 mm bilateral medial rectus recessions. At the last follow up examination, 6 to 48 months postoperatively (average 16.3 months), successful horizontal alignment was achieved in 12 patients (75%). Four patients (25%) were undercorrected. Clinically significant limitation of adduction or convergence was not observed postoperatively in any of the patients. Consecutive exotropia was not encountered in this series but a longer follow up is probably needed in order to assess its delayed appearance. These results suggest that 8 mm recession of the medial recti is an effective procedure for the correction of large angle infantile esotropia of 80-90 prism dioptres and can be considered as an acceptable alternative to operations on three or four muscles.

Child, Preschool↗
PubMed2006

A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.

BACKGROUND: Oculodentodigital syndrome (ODD) is a pleiotropic congenital disorder characterised by abnormalities of the face, eyes, dentition, and limbs. ODD, which is inherited as an autosomal dominant trait, results from missense mutations in the gap junction protein connexin 43. OBJECTIVE: To analyse a family with a history of ODD which is inherited in an autosomal recessive manner RESULTS: ODD in this family resulted from the homozygous mutation R33X in the first transmembrane domain of connexin 43. CONCLUSIONS: The findings provide clear genetic evidence that ODD can be inherited in an autosomal recessive manner and that a dominant negative mechanism underlies autosomal dominant ODD.

Codon, Nonsense↗