A novel deletion mutation in the <Emphasis Type=Italic>TUSC3</Emphasis> gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

Authors:	Muzammil Ahmad Khan Muhammad Arshad Rafiq Abdul Noor Nadir Ali Ghazanfar Ali John B Vincent Muhammad Ansar

Affiliation:	(1) Department of Biochemistry, Quaid-i-Azam University Islamabad, Islamabad, Pakistan;(2) Molecular Neuropsychiatry & Development Lab, Neurogenetics Section, Centre for Addiction and Mental Health, Toronto, ON, Canada;(3) Center of Excellence in Biotechnology Research, King Saud University, Riyadh, Kingdom of Saudi Arabia;(4) Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada

Abstract:	Background Intellectual disability (ID) is a serious disorder of the central nervous system with a prevalence of 1-3% in a general population. In the past decades, the research focus has been predominantly on X-linked ID (68 loci and 19 genes for non syndromic X linked ID) while for autosomal recessive nonsyndromic ID (NSID) only 30 loci and 6 genes have been reported to date.

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