Author(s):
1. Muhammad Shahid:
Department of Zoology, Division of Science and Technology, University of Education Lahore, Pakistan.
2. Ahmad Waqas:
Department of Biological and Environmental Sciences, Emerson University Multan, Pakistan.
3. Rana Muhammad Kamran Shabbir:
Department of Zoology, RWU,Rawalpindi, Pakistan.
Abstract:
Neurodevelopmental disorders are genetically heterogenous group of disorders which are characterized by mental conditions affecting the development of nervous system. NDDs are highly heterogenous due to their clinical characteristics, etiology, outcomes and treatments responses. NNDs are mostly genetic and occur due to genetic mutations. Moreover, prevalence of neurodevelopmental disorders varies depending upon population and consanguinity practices. This study investigated two families with distinct neurodevelopmental disorders phenotypes. Both families were recruited from south Punjab region of Pakistan showing the clinical features of neurodevelopmental disorder mainly intellectual disability and informed written consent was taken from the guardian of each family. After acquiring the clinical data, blood samples were taken from each family for DNA isolation. DNA was extracted from blood by using the phenol-chloroform method. One Family, affected with NNDs underwent targeted Sanger sequencing, which resulted in the identification of homozygous insertion (Chr19:47259561- 47259562insA) in the coding region of exon 4 of FKRP gene. Mutation taster and other in-silico tools predicted it as pathogenic variant. In the same way, another family, afflicted with neurodevelopmental disorders, also underwent Sanger sequencing, but we could not find any variant in FKRP gene. Further advanced screening techniques such as whole genome sequencing (WGS) can be performed in the studied family B to provide genetic diagnosis and mutational analysis.
Page(s):
222-222
DOI:
DOI not available
Published:
Journal: 4th International Conference of Sciences “Revamped Scientific Outlook of 21st Century, 2025” , November 12,2025, Volume: 1, Issue: 1, Year: 2025
Keywords:
intellectual disability
,
whole genome sequencing
,
Neurodevelopmental disorders
,
Sanger Sequencing
,
FKRP
References:
References are not available for this document.
Citations
Citations are not available for this document.