Identification of a Novel Protein Truncating Mutation in SCAPER Gene Causing Syndromic form of Intellectual Disability | Abstract Book on International Conference on Life Sciences (ICLS-23) 11-12 May 22-23 2023

Author(s)

Muhammad Zeeshan Ali Gomal Center of Biochemistry and Biotechnology, Gomal University, D.I.Khan, 29050, Khyber Pakhtunkhwa, Pakistan

Safeer Ahmad Gomal Center of Biochemistry and Biotechnology, Gomal University, D.I.Khan, 29050, Khyber Pakhtunkhwa, Pakistan

Muzammil Ahmad Khan Gomal Center of Biochemistry and Biotechnology, Gomal University, D.I.Khan, 29050, Khyber Pakhtunkhwa, Pakistan

Abstract

Intellectual disability (ID) is a genetic disorder characterized by defects in cognitive functioning and adaptive behavior. Worldwide, it affects 1-3% general population with higher risk to consanguineous population. Intellectual disability is clinically a heterogeneous disorder and may exhibit variable phenotype. Intellectual Developmental Disorder and Retinitis Pigmentosa (IDDRP) is a rare form of syndrome in which patients suffer from ID as well as retinitis pigmentosa. In the current genetic study, a large Pakistani family with multiple affected individuals was analyzed through whole exome sequencing (WES). The clinical analysis of patients revealed ID, and severe night blindness due retinal pigmentation. WES identified a novel protein truncating mutation c.A2605T {p.Lys869X} in the SCAPER gene. S-phase cyclin A-associated protein in the endoplasmic reticulum (SCAPER) has been previously been reported in intellectual developmental disorder with retinitis pigmentosa. In silico findings indicated structural and interactional changes in SCAPER protein. Here we report a novel mutation in SCAPER gene underlying ID with RP in consanguineous Pakistani family. The present study has broaden the mutational spectrum of the SCAPER gene and will be helpful in genetic counselling of the family to prevent the further segregation of disease.

Publication Details

Page(s) 11-11

DOI DOI not available

Published Journal: Abstract Book on International Conference on Life Sciences (ICLS-23) 11-12 May 22-23, Volume: 0, Issue: 0, Year: 2023

Keywords

intellectual disability modelling and docking Retinitis pigmentosa Pakistani family SCAPER

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