title: Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.
abstract: Microspherophakia seems to be the most specific feature of the Weill-Marchesani Syndrome, which could be due to mutations within the ADAMTS10 gene. As the locus responsible for isolated microspherophakia is still unknown, because the reported cases are rare, we checked whether the ADAMTS10 gene is involved in isolated microspherophakia in a Tunisian family. A consanguineous family (MSP-M), including six family members and two patients, presented with decreased vision secondary to bilateral isolated microspherophakia. A linkage analysis was carried out using microsatellite markers flanking the ADAMTS10 candidate gene. In the MSP-M family, isolated microspherophakia is likely inherited as an autosomal-recessive disease. Using a homozygosity-mapping strategy, haplotypic analysis using four STRs showed an exclusion of linkage between the ADAMTS10 gene and the disease locus in this family. Our study suggests that isolated microspherophakia and the Weill-Marchesani Syndrome are not allelic to the ADAMTS10 gene.
authors.affiliation: Research Unit, Department of Ophthalmology, Eye and Systemic Diseases, 02/UR/08-17, Faculty of Medicine, Monastir, Tunisia.
authors.forename: Salim
authors.initials: S
authors.lastname: Ben Yahia
authors.forename: Farah
authors.initials: F
authors.lastname: Ouechtati
authors.forename: Bechir
authors.initials: B
authors.lastname: Jelliti
authors.forename: Sonia
authors.initials: S
authors.lastname: Nouira
authors.forename: Sonia
authors.initials: S
authors.lastname: Chakroun
authors.forename: Sonia
authors.initials: S
authors.lastname: Abdelhak
authors.forename: Moncef
authors.initials: M
authors.lastname: Khairallah
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000071096:ADAMTS Proteins; D000293:Adolescent; D000328:Adult; D003241:Consanguinity; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D007908:Lens, Crystalline / Q000002:abnormalities*; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D014416:Tunisia; D056846:Weill-Marchesani Syndrome / Q000235:genetics
chemical_list: D051722:ADAM Proteins; D000071096:ADAMTS Proteins; C494614:ADAMTS10 protein, human