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Investigation of Four Genes Responsible for Autosomal Recessive Congenital Cataract and Highly Expressed in the Brain in Four Unrelated Tunisian Families

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Open Journal of Ophthalmology 2012年第3期2卷 64-70页

作者： Manèl Chograni Myriam chaabouni Faouzi Maazoul habiba chaabouni bouhamed Charles Nicolle hospital Congenital and Hereditary Disorders Department Tunis Tunisia University Tunis Elmanar Faculté de Médecine de Tunis Laboratoire Génétique Humaine Tunis Tunisia

Purpose: To identify the causative gene for phenotypes associating autosomal recessive congenital cataract, mental retardation and congenital cataract, mental retardation and microcephaly in four unrelated Tunisian families. Methods: Four genes (EPHA2, GALK1, GCNT2, and CRYBB1) were selected based on expression in human brain and their known or putative function. Linkage analyses were performed for the four genes in multiple affected and unaffected families’ members and results were explored by the GeneMapper ID v3.2 software. Results: No linkage was identified for the four studied genes in the four families. Affected members of each family did not share common haplotypes in corresponding candidate regions containing selected gene. Conclusion: Although the four studied genes were reported responsible for autosomal recessive congenital cataract and highly expressed in the human brain, we report no linkage for EPHA2, GALK1, GCNT2, and CRYBB1 genes in four families with congenital cataract, mental retardation and congenital cataract, mental retardation and microcephaly.

关键词： Congenital Cataract Mental Retardation Microcephaly Autosomal Recessive Association Linkage Study

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Clinical and Molecular Cytogenetic Study of 38 Williams-Beuren Syndrome Tunisian Patients

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Open Journal of Genetics 2014年第5期4卷 385-391页

作者： Ines Ouertani Myriam chaabouni Imen Chelly Lilia Kraoua Faouzi Maazoul Mediha Trabelsi Rym Meddeb Rafik Boussaada Hatem Azzouz Fatma Charfi Emira Ben Hamida Ahmed Meherzi Ridha Mrad habiba bouhamed-chaabouni Service des Maladies Congénitales et Héréditaires H&#244pital Charles Nicolle Tunis Tunisie Service de Pédiatrie H&#244pital Régional de Bizerte Bizerte Tunisie Service de Cardiologie Pédiatrique H&#244pital la Rabta Tunis Tunisie Service de Pédiatrie H&#244pital la Rabta Tunis Tunisie Service de Pédopsychiatrie H&#244pital Razi La Mannouba Tunisie Service de Néonatologie H&#244pital Charles Nicolle Tunis Tunisie Service de Pédiatrie H&#244pital Mongi Slim La Marsa Tunisie

Background: Williams-Beuren syndrome (WBS) is a rare multi-system genomic disorder, caused by 7q11.23 microdeletion with a prevalence of 1/7500 - 1/20,000 live births. Clinical phenotype includes typical facial dysmorphism (elfin face), mental retardation associated with a peculiar neuropsychological profile and congenital heart defects. Other signs are occasional like ocular, skeletal, renal and dental anomalies. Here in, we present 38 WBS Tunisian patients. Methods: All patients underwent a genetic consultation and in order to confirm the clinical diagnosis of WBS, fluorescent in situ hybridization (FISH) was applied on metaphase spreads using the dual color locus specific identifier WBS region probe (Vysis probe) that hybridized to the ELN and LIMK1 loci at 7q11.23 and to control loci D7S486 and D7S522 at 7q31. About 15 to 20 metaphases were analyzed for each case. Results: The mean age at diagnosis was 4 years and 4 months. All patients showed facial dysmorphism. 66% (23/35) have cardiovascular anomaly, peripheral pulmonary stenosis (10/35) is interestingly more frequent than the supravalvular aortic stenosis (7/35). Various degrees of mental retardation were present and a normal intelligence was found in three patients. The unique cognitive profile was found in all patients except one who had autistic disorders. Ocular anomalies (13/38) were less frequent than described, the skeletal anomalies too (12/38). Dental malformations were frequent (22/32). Idiopathic hypercalcemia was present in 50% of children less than one year (2/4). Conclusions: WBS was a rare disorder, cardinal signs (facial dysmorphism, mental retardation and cardiovascular defects) were found in our patients in the same proportions than described. The occasional clinical signs have proportion different of precedent reported like hypercalcemia, ocular and dental anomalies. The identification of the different clinical signs in WBS patients permits to establish a strategy of follow up.

关键词： Williams-Beuren Syndrome FISH Dysmorphism Cardiovascular Malformation

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