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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

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

Memoona Rasheed¹, Valeed Khan¹, Ricardo Harripaul^2,3

¹Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, 45320, Pakistan.

BMC Medical Genomics

|August 28, 2021

Abstract

Background:

Intellectual disability (ID) is a phenotypically and genetically heterogeneous disorder.

Methods:

In 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.

Results:

In 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.

Conclusion:

These findings expand the existing knowledge of variants and genes implicated in autosomal recessive and X linked ID.

Keywords:

Autosomal recessive Consanguinity Intellectual disability Mutation

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