Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.

Salim Ben Yahia 1 Farah Ouechtati 2, 3 Bechir Jelliti 1 Sonia Nouira 2 Sonia Chakroun 2 Sonia Abdelhak 2, * Moncef Khairallah 1
* Auteur correspondant
1 Department of Ophthalmology, Eye and Systemic Disease
2 Molecular Investigation of Genetic Orphan Diseases Research Unit
3 Oculogenetics Research Unit
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.
Keywords : ADAMTS10 autosomal recessive candidate gene isolated Microspherophakia
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Article dans une revue
Journal of Human Genetics, Nature Publishing Group, 2009, 54 (9), pp.550-3. 〈10.1038/jhg.2009.75〉
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https://hal-riip.archives-ouvertes.fr/pasteur-01375323
Contributeur : Institut Pasteur Tunis <>
Soumis le : jeudi 5 janvier 2017 - 09:33:16
Dernière modification le : lundi 5 février 2018 - 15:22:12

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Salim Ben Yahia, Farah Ouechtati, Bechir Jelliti, Sonia Nouira, Sonia Chakroun, et al.. Clinical and genetic investigation of isolated microspherophakia in a consanguineous Tunisian family.. Journal of Human Genetics, Nature Publishing Group, 2009, 54 (9), pp.550-3. 〈10.1038/jhg.2009.75〉. 〈pasteur-01375323〉

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