Publications by authors named "Mohammod Shah Jahan Chowdhury"
Article Synopsis
- - The study investigates the genetic basis of neurodevelopmental disorders (NDDs) in a diverse ethnic group with high consanguinity, focusing on 576 individuals to reveal significant genetic insights.
- - Different sequencing methods were used to diagnose genetic causes, with a notable increase in diagnostic rates for children of consanguineous parents; combined CMA and exome sequencing yielded a 37.13% diagnostic rate.
- - Key findings include the discovery of novel genetic variants related to NDDs, the identification of an association between G6PD variants and NDDs, and hints at the influence of ancient genetic drift in this Bangladeshi population.
Article Synopsis
- The 15q11-q13 genetic region is crucial for neurodevelopment and exhibits genomic imprinting, where gene expression differs depending on whether the gene is inherited from the mother or the father.
- Neurodevelopmental disorders like Prader-Willi syndrome and Angelman syndrome arise from the absence of specific genes in this region due to imprinting errors.
- A genomic study was conducted on a Bangladeshi population to identify pathogenic variants in this region, leading to in-depth clinical evaluations of individuals with suspected neurodevelopmental disorders.
Duchenne muscular dystrophy (DMD) is a severe rare neuromuscular disorder caused by mutations in the X-linked dystrophin gene. Several mutations have been identified, yet the full mutational spectrum, and their phenotypic consequences, will require genotyping across different populations. To this end, we undertook the first detailed genotype and phenotype characterization of DMD in the Bangladeshi population.
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