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2.
Clin Genet ; 82(6): 534-9, 2012 Dec.
Article in English | MEDLINE | ID: mdl-22035446

ABSTRACT

Glycogen storage disease type III (GSD III) is an autosomal recessive disorder characterized by excessive accumulation of abnormal glycogen in the liver and muscles and caused by deficiency in the glycogen debranching enzyme, the amylo-1,6-glucosidase (AGL). In this study, we report the clinical, biochemical and genotyping features of five unrelated GSD III patients coming from the same region in Tunisia. The concentration of erythrocyte glycogen and AGL activity were measured by colorimetric and fluorimetric methods, respectively. Four CA/TG microsatellite markers flanking the AGL gene in chromosome 1 were amplified with fluoresceinated primers. The full coding exons and their relevant exon-intron boundaries of the AGL gene were directly sequenced for the patients and their parents. All patients showed a striking increase of erythrocytes glycogen content. No AGL activity was detected in peripheral leukocytes. Sequencing of the AGL gene identified a c.3216_3217delGA (p.Glu1072AspfsX36) mutation in the five patients which leads to a premature termination, abolishing the AGL activity. Haplotype analysis showed that the mutation was associated with a common homozygote haplotype. Our results suggested the existence of a founder effect responsible for GSD III in this region of Tunisia.


Subject(s)
Founder Effect , Glycogen Debranching Enzyme System/genetics , Glycogen Storage Disease Type III/genetics , Sequence Deletion/genetics , Base Sequence , Colorimetry , Computational Biology , Erythrocytes/chemistry , Female , Fluorometry , Genes, Recessive , Genotype , Glycogen/analysis , Haplotypes/genetics , Humans , Male , Microsatellite Repeats/genetics , Molecular Sequence Data , Sequence Analysis, DNA , Tunisia
3.
Ann Dermatol Venereol ; 137(4): 269-75, 2010 Apr.
Article in French | MEDLINE | ID: mdl-20417359

ABSTRACT

BACKGROUND: Punctate palmoplantar keratoderma (PPPK), or Buschke-Fischer-Brauer's disease, is a rare form of genodermatosis with autosomal dominant transmission and with variable penetrance. Its molecular basis remains unknown. Two loci were found to be linked to this disease: one on 15q22 and the other on 8q24. We report the clinical and genetic characteristics of PPPK in a Tunisian family. PATIENTS AND METHODS: A Tunisian family with PPPK was identified through a proband. As far as possible, history taking, physical examination, histopathological tests and blood sampling for DNA extraction were carried out for each patient. RESULTS: Seventeen patients were included in this study. Age ranged from 15 to 81 years with a sex-ratio of 3.2 m/f. Lesions appeared between the ages of 10 and 65 years and at a mean of 28 years. Clinically, lesions ranged from few keratotic papules on the palms to coalescence of lesions in plaques over palmar and/or plantar surfaces. Hyperhydrosis, hypopigmented macules and nail dystrophy were frequently associated. In all patients, histopathological examination revealed thickening of the epidermis with compact orthohyperkeratosis overlying a small and sharply demarcated area of depressed epidermis. Mechanical measures and keratolytic ointments proved non-beneficial. Genotyping for chromosomes 8 and 15 as well as LOD scores confirmed genetic linkage with the suspected locus on chromosome 15q, with the interval of the locus in question reduced to 3.26 Mb. This region is flanked by markers D15S987 and D15S153. CONCLUSION: Our study of this family confirmed the classical characteristics of KPP-BFB as well as demonstrating several associated clinical signs of which the significance will be determined in subsequent studies. Further screening studies to identify mutated genes in the region of interest will help us to understand the molecular basis of this disease and hopefully to propose suitable treatment.


Subject(s)
Chromosomes, Human, Pair 15/genetics , Keratoderma, Palmoplantar, Diffuse/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Child , Chromosome Mapping , DNA/genetics , Epidermis/pathology , Female , Genes, Dominant , Haplotypes/genetics , Humans , Keratoderma, Palmoplantar, Diffuse/epidemiology , Keratoderma, Palmoplantar, Diffuse/pathology , Lod Score , Male , Microsatellite Repeats , Middle Aged , Pedigree , Tunisia/epidemiology
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