GENETIC AND MOLECULAR CHARACTERIZATION OF THE PATIENTSWITH INTELLECTUAL DISABILITY FROM KHUZDAR
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Author:
QURAT UL AIN
Citable URI :
https://vspace.vu.edu.pk/detail.aspx?id=393
Publisher :
Virtual University
Date Issued:
7/7/2020 12:00:00 AM
Abstract
Intellectual disability is a neurodevelopmental disorder in which intellectual functioning is
affected and discrepancies are present in at least two adaptive behaviors (American Psychiatric
Association 2000). It develops before age 18 and intelligence quotient is below 70 of affected
person. Its prevalence is approximately 1% to 3%.in all over the world. Mostly its cases are
heterogenic in nature. Although it is present in all parts of the world, but developing countries are
affected more, where standard of living is low and consanguinity is more common. It may be due
to the prevailing environment in cultures where socioeconomic status of people is not good. Two
main reasons of ID are genomic and external factors like environment. In developed countries, it
is mostly due to genetic factors, but the underlying cause is not determined in most cases. Genetic
factors can be chromosomal aberrations, X-linked, autosomal recessive or autosomal dominant or
de novo mutations. In contrast to past few decades, now it is assumed that autosomal-recessive
forms of non-syndromic MR (NS-ARMR) are more prevailing than X-linked mental retardation.
Although these autosomal recessive gene abnormalities are the common culprits in intellectual
disability, yet there is very little research about them.
In present study five families from various areas of Khuzdar were enrolled. These families have
two or more members suffering from intellectual disability. A complete medical history was
obtained to minimize likelihood of other problems like environmental issues. Then sequencing of
TRAPPC9 gene is performed and results show variants in three families.
Family 1 and 2 showed synonymous variant in exon 11 of TRAPPC9 gene at c.1692 C>T
(p.Asn564Asn), where nucleotide sequence changes from AAC>AAT but amino acid does not
change (rs12549048). Family 1 also showed missense mutation in exon 19, c.2797 G>A
(p.Gly933Ser), where change from GGT>AGT results in substitution of Serine instead of
Glycine (rs114949291). Family 5 show missense changes in exon 18 of this gene, at c.2647 G>A
(p.Glu883Lys), where change from GAA>AAA results in Lysine instead of Glutamic acid
(rs1202087896).
URI :
https://vspace.vu.edu.pk/details.aspx?id=393
Citation:
Quratul Ain(2019).GENETIC AND MOLECULAR CHARACTERIZATION OF THE PATIENTSWITH INTELLECTUAL DISABILITY FROM KHUZDAR. Virtual University of Pakistan(Lahore, Pakistan)
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Final Version
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