Journal of Childhood & Developmental Disorders

Autosomal Recessive Intellectual Disability in Consanguineous Pakistani Families

Intellectual disability, a neurodevelopmental condition, is defined by restrictions in intellectual and adaptive behavior. It must be diagnosed before the age of 18 years. The clinical criterion for intellectual disability is an IQ score of 70 or below. The genetics cause almost 50% of ID. In the case of Non-Syndromic ID (NS-ID), which manifests the disease as a sole disability, has more than two hundred candidate genes identified till date. The Autosomal Recessive ID (ARID) genes are not prevalent in the genome, complexes of proteins and the functions of the specific proteins are remarkably diverse. Therefore, few genes at the first step of diagnostics cannot be picked. Using advanced sequencing techniques, such as Whole Exome Sequencing (WES) and Whole Genome Sequencing (WGS), will contribute to the identification of known genes, novel genes, or mutations co-segregating with the disease in the Pakistani population. Some ARID genes that have been reported are SMPD1, SPG11, ASPM, CEP290, POLG, CEP290, POLG, LAMA2, MUT, GALT, VPS13B, ASPM, and GLDC. In the past few months, this evidence has been steadily increasing that ARID genes are pleiotropic so the occurring phenotypes could encompass a wide spectrum. Research must be conducted at the gene level rather than counting on large meta-analyses. The focal point of this research is to characterize clinical heterogeneity in ID families, and the identification of disease-causing variants that will play a role in early ID diagnosis, and development of prenatal testing, and will also provide a definite understanding regarding the molecular mechanisms of ID.

Author(s): Maroosha Tabassum and Uzma Abdullah*

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