Exome sequencing identifies novel and known mutations in families with intellectual disability

BMC Medical Genomics

Zahid Ullah¹  Muhammad Ansar¹  Valeed Khan¹  Madiha Amin Malik¹  Muhammad Zahid¹  Memoona Rasheed¹  Maimoona Siddiqui²  Ricardo Harripaul³  John B. Vincent⁴ 

[1] Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan;Division of Neurology, Shifa College of Medicine, H-8/1, Islamabad, Pakistan;Molecular Neuropsychiatry and Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, M5T 1R8, Toronto, ON, Canada;Institute of Medical Science, University of Toronto, M5S 1A8, Toronto, ON, Canada;Molecular Neuropsychiatry and Development (MiND) Lab, Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, M5T 1R8, Toronto, ON, Canada;Institute of Medical Science, University of Toronto, M5S 1A8, Toronto, ON, Canada;Department of Psychiatry, University of Toronto, M5T 1R8, Toronto, ON, Canada;

关键词: Intellectual disability;    Mutation;    Autosomal recessive;    Consanguinity;   

DOI  :  10.1186/s12920-021-01066-y

来源: Springer

【 摘 要 】

BackgroundIntellectual disability (ID) is a phenotypically and genetically heterogeneous disorder.MethodsIn this study, genome wide SNP microarray and whole exome sequencing are used for the variant identification in eight Pakistani families with ID. Beside ID, most of the affected individuals had speech delay, facial dysmorphism and impaired cognitive abilities. Repetitive behavior was observed in MRID143, while seizures were reported in affected individuals belonging to MRID137 and MRID175.ResultsIn two families (MRID137b and MRID175), we identified variants in the genes CCS and ELFN1, which have not previously been reported to cause ID. In four families, variants were identified in ARX, C5orf42, GNE and METTL4. A copy number variation (CNV) was identified in IL1RAPL1 gene in MRID165.ConclusionThese findings expand the existing knowledge of variants and genes implicated in autosomal recessive and X linked ID.

【 授权许可】

CC BY