کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2817572 1569849 2012 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation
چکیده انگلیسی

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.


► Linkage on chr6p12 and 7q34 in a family with hearing and neurological disorders
► Identification of a deletion on chromosome 8p in the two autistic individuals
► Illustration of how consanguinity could increase familial clustering of diseases

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 510, Issue 2, 1 December 2012, Pages 102–106
نویسندگان
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