Abstract:
Intellectual disability, previously known as mental retardation, is a significant central nervous system disorder that impairs cognitive function and impacts learning ability. An intelligence quotient (IQ) of less than 70, impairment in at least two adaptive abilities, and illness starts before the age of 18 years are the main characteristics of intellectual disability. Malnutrition, cultural deprivation, and genetic reasons are the most common risk factors for intellectual impairment in underdeveloped nations (due to parental consanguinity). According to common estimates, intellectual impairment affects 1 to 3 percent of the world's population. Here in the current study, a Pakistani consanguineous family was recruited in the present genetic study. This family belonged to D. I. Khan District respectively, exhibiting non-syndromic, recessive disease segregation. In case of this family, mutation analysis found, a missense mutation in the 27th exon of TENM1 gene (TENM1: NM014253:exon27:c. A5378G:p.N1793S) which resulted in disease etiology. TENM1 gene is involved in controlling the creation of appropriate connections within the nervous system and playing a role in brain development, also serves as a cellular signal transducer and plays a part in controlling the limbic system's neuroplasticity. Protein modelling found that these pathogenic mutations dramatically altered the tertiary structure of proteins. It is advised to do more research, such as cell-based tests, to figure out the in vivo effect of mutation. The current study has increased the mutational spectrum TENM1 gene. The study will also help in genetic counselling of families at the risk of Intellectual Disability.
Page(s):
289-289
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:
intellectual disability
,
segregation
,
Protein modelling
,
TENM1 gene
,
Xlinked recessive disease
,
missense mutation