Genetic landscape of non-syndromic intellectual disability

سال انتشار: 1396
نوع سند: مقاله کنفرانسی
زبان: انگلیسی
مشاهده: 378

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شناسه ملی سند علمی:

NGCMED10_119

تاریخ نمایه سازی: 16 تیر 1397

چکیده مقاله:

Non-syndromic Intellectual disability (NSID) is one of the most serious neurocognitive disorders characterizedby the reduction in cognitive abilities and adaptive behaviors without any additional features. With theprevalence of 1–3% in the general population, the socio-economic impact of NSID is considerable. Because ofheterogeneous etiopathological genetic factors, identification of causes by next generation high throughputmolecular methods (like NGS) would facilitate genetic counseling and screening to avoid birth of affected babiesespecially in consanguinity. In the last decade, more than 60 genes have been discovered by an increasingnumber of studies conducted on the genes and loci involved in NSID. These genes belong to different pathwayssuch as neuronal differentiation and synaptic plasticity, synaptic vesicle trafficking and exocytosis,transcriptional regulation, chromatin remodeling and regulation of actin cytoskeleton. In this update, theremarkable ongoing progress in identifying functions and molecular mechanisms of the recently discoveredgenes are described.

نویسندگان

Reza Molaa-Alinejad

Department of medical genetics, Faculty of Medicine, University of Medical Sciences, Kerman, Iran

Kolsoum Saeidi

Department of medical genetics, Faculty of Medicine, University of Medical Sciences, Kerman, Iran