Publications by authors named "F J Sheth"
Purpose: Complex chromosomal rearrangements (CCRs) often remain unidentified as they are rarely observed in the general population. Females with CCRs are generally recognized on the identification of an affected child with multiple congenital anomalies (MCA) or having a history of repeated pregnancy loss/bad obstetric history (RPL/BOH). In contrast, males with CCRs are diagnosed primarily due to infertility.
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- - The study analyzed the clinical and genetic features of 16 individuals with KBG syndrome (KBGS) from 13 Indian families, focusing on likely pathogenic variants in the ANKRD11 gene.
- - Key clinical traits observed included a high prevalence of learning/intellectual disabilities (93%), skeletal abnormalities (93%), and distinctive facial features (87%).
- - Genetic analysis revealed 12 single nucleotide variants (SNVs) in the ANKRD11 gene, with many clustering around exon 9, and the Face2Gene application showed high accuracy in suggesting differential diagnoses for KBGS.
Article Synopsis
- Rare disorders include about 7,500 different conditions that are challenging to diagnose due to a lack of specialized healthcare, testing facilities, and treatment options, particularly in countries like India with diverse population groups.
- This study examined a cohort of 3,294 patients with 305 identified rare genetic diseases, primarily affecting the neuromuscular and neurodevelopmental systems, as well as inborn errors of metabolism.
- The findings revealed that the most common diseases were Gaucher disease in the IEM category, and Duchenne muscular dystrophy and trinucleotide repeat expansion disorders in the NMND group, highlighting the need for more focused genetic research and healthcare resources in India.
Article Synopsis
- Current diagnostic methods for lysosomal storage disorders (LSDs) in India are lengthy and expensive, relying on biochemical tests and DNA sequencing, which often yield low results due to overlapping symptoms.
- Researchers have created a novel, cost-effective sequencing assay using single-molecule molecular inversion probes (smMIPs) that accurately identifies genetic variants linked to 29 common LSDs.
- The new assay showed a high diagnostic yield of 83.4% in patients with previous biochemical diagnoses and effectively detected rare diseases like Niemann-Pick type C, outperforming traditional methods and allowing for flexible use with different sample types.