Genetic evaluation of selected intellectual disability family from District Kohat | [Abstract Book on International Conference on Food and Applied Sciences (ICFAS-23) 3-5 August 23 • 2023]

Author(s):

1. Amir Nawaz: Department of Biotechnology and Genetic Engineering, KUST, Kohat, KP, Pakistan

2. Shahbaz Ali Shah: Department of Biotechnology and Genetic Engineering, KUST, Kohat, KP, Pakistan

3. Nazif Muhammad: Department of Biotechnology and Genetic Engineering, KUST, Kohat, KP, Pakistan

4. Niamatullah Khan: Department of Biotechnology and Genetic Engineering, KUST, Kohat, KP, Pakistan

5. Qazi Muhammad Raafiq: Department of Biotechnology and Genetic Engineering, KUST, Kohat, KP, Pakistan

6. Noor Muhammad: Department of Biotechnology and Genetic Engineering, KUST, Kohat, KP, Pakistan

7. Saadullah Khan: Department of Biotechnology and Genetic Engineering, KUST, Kohat, KP, Pakistan

Abstract:

Intellectual disability (ID), also known as cognitive impairment, is a condition characterized by significant limitations in cognitive functioning and adaptive behavior. ID affects 1-3 percent of the world population, before the age of 18 years. Speech delay, hypotonia, seizures, psychomotor slowing, congenital malformation, primary microcephaly, short stature are the symptoms of ID. The ratio of males is 1.5% higher than females. ID is usually measured by assessing an individual's intelligence quotient (IQ) and adaptive behavior. Normally a score of less than 70 is considered as ID patient. There are four levels of IQ in ID that is mild (IQ less than 70), moderate (IQ 35-55), severe (IQ 20-40) and profound (IQ 20-25). Current research aimed to identify the genetic variants, in affected families from District Kohat, responsible for ID. The study was approved by the ethical approval committee of Kohat University of Science and Technology, Kohat and samples were collected from the available members of the affected family. Genomic DNA was extracted from the whole blood and samples were subjected to whole exome sequencing. Whole exome sequencing revealed a missense variant (c.696G>A; p.Thr232) in TTC5 gene. Sanger sequencing confirmed the co-segregation of the variant in the family.

Page(s): 348-348

DOI: DOI not available

Published: Journal: Abstract Book on International Conference on Food and Applied Sciences (ICFAS-23) 3-5 August 23, Volume: 0, Issue: 0, Year: 2023

Keywords:

Whole exome sequencing , cognitive , intellectual disability , genetic variants , IQ

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