Publications by authors named "Saquib Ali Lakhani"
Background: Bardet-Biedl Syndrome (BBS) is a rare (1:13,500-1-160,000) heterogeneous congenital disorder, characterized by postaxial polydactyly, obesity, hypogonadism, rod-cone dystrophy, cognitive impairment, and renal abnormalities (renal cystic dysplasia, anatomical malformation). To date about twenty-five genes have been identified to cause BBS, which accounts for about 80% of BBS diagnosis.
Methods: In the current study, we have performed mutational screening of four Pakistani consanguineous families (A-D) with clinical manifestation of BBS by microsatellite-based genotyping and whole exome sequencing.
Article Synopsis
- Cilia are important cellular structures that help in signaling and maintaining healthy tissue; their dysfunction can cause various diseases affecting multiple organs.
- Research on patients from four unrelated families identified harmful genetic variants linked to diverse health issues, including kidney and heart diseases, and these issues were also modeled using frog embryos.
- The study concluded that mutations in the DLG5 gene are crucial for cilia function, and the found variations contributed significantly to the observed diseases, indicating a relationship between ciliary dysfunction and specific health problems.
Article Synopsis
- Early infantile epileptic encephalopathies are severe disorders characterized by early seizures and developmental delays, with some cases linked to specific gene mutations through next-generation sequencing.
- The study aimed to identify candidate genes responsible for these conditions, using whole exome sequencing and CRISPR/Cas9 to analyze the functional impact of genetic variants in frog tadpoles.
- Researchers found novel gene variants in two children that led to seizures in tadpoles, supporting the idea that these variants are likely harmful and contribute to the disease.