What question did this study set out to answer?

This research aims to identify genetic mutations linked to neurological disorders in affected Pakistani families.

A Novel Missense Substitution in NSUN2 and a Stop Codon in ASPM Causes Neurological Disorders in Pakistani Families

View Full Paper

Ask AI

Bookmark

Authors

Genetic analysis identifies disease-causing variants in neurological disorders among Pakistani families, suggesting new mutation pathways.

This research aims to identify genetic mutations linked to neurological disorders in affected Pakistani families.
Investigated two consanguineous families with intellectual disability and primary microcephaly.
Documented clinical information including age, sex, and various symptoms.
Conducted whole exome sequencing and Sanger sequencing to detect genetic variants.
Identified a novel homozygous missense substitution in the NSUN2 gene (c.1853G>T, p.Arg618Ile).
Detected a stop codon in the ASPM gene (c.3978G>A, p.Tryp1326X).
Expanded the mutation spectrum of NSUN2 and ASPM genes associated with neurological disorders.

Kakar et al. (2026) studied this question.

View Full Paper

Ask AI

Bookmark

Genetic analysis identifies disease-causing variants in neurological disorders among Pakistani families, suggesting new mutation pathways.