title: Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.
abstract: Hearing loss is a common congenital anomaly with an incidence of 1 in 1000 live births. It has been described together with several other clinical features as fortuitous association or commune genetic syndrome. In this study, we investigated a consanguineous Tunisian family with moderate to profound congenital hearing loss, mental retardation and autistic behaviors. We performed a genome wide microarray analysis study using approximately 300,000 SNPs in a common set of 7 invidious of this family. We identified regions of suggestive linkage with hearing loss on chromosomes 6p12 and 7q34. In addition, we identified a deletion on chromosome 8p in the two autistic individuals. This report presents an illustration of how consanguinity could increase familial clustering of multiple hereditary diseases within the same family. The application of next generation sequencing for this family seems to be a good strategy for further analysis leading to the identification of candidate genes.
authors.affiliation: Microorganisms and Biomolecules Laboratory Centre of Biotechnology of Sfax, Sfax University, Tunisia.
authors.forename: Mohamed Ali
authors.initials: MA
authors.lastname: Mosrati
authors.forename: Isabelle
authors.initials: I
authors.lastname: Schrauwen
authors.forename: Hassen
authors.initials: H
authors.lastname: Kamoun
authors.forename: Ilhem
authors.initials: I
authors.lastname: Charfeddine
authors.forename: Erik
authors.initials: E
authors.lastname: Fransen
authors.forename: Abdelmonem
authors.initials: A
authors.lastname: Ghorbel
authors.forename: Guy
authors.initials: G
authors.lastname: Van Camp
authors.forename: Saber
authors.initials: S
authors.lastname: Masmoudi
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D002896:Chromosomes, Human, Pair 6; D002897:Chromosomes, Human, Pair 7; D002898:Chromosomes, Human, Pair 8; D003241:Consanguinity; D005260:Female; D055106:Genome-Wide Association Study; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D009006:Monosomy; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D014416:Tunisia