Publications by authors named "Sanjeeva Ghanti Narayanachar"
Article Synopsis
- * Researchers used genomic analysis, including targeted gene sequencing and bioinformatics, to identify 49 pathogenic variations, with 27 being novel; high consanguinity in the local population contributed to diverse GSD findings.
- * The largest subgroup identified was GSDIII, with significant variations in the AGL gene; this research represents the first comprehensive study of GSDs in India, contributing to understanding the genetic landscape of these disorders.
Background: Dyggve-Melchior-Clausen dysplasia (DMC) and Smith-McCort dysplasia (SMC types 1 and 2) are rare spondyloepimetaphyseal dysplasias with identical radiological findings. The presence of intellectual disability in DMC and normal intellect in SMC differentiates the two. DMC and SMC1 are allelic and caused by homozygous or compound heterozygous variants in .
View Article and Find Full Text PDFBackground: Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies PTPN11 is one of the genes with a significant number of pathogenic variants in NS-affected patients. Therefore, clinically diagnosed NS individuals are initially tested for pathogenic variants in PTPN11 gene to confirm the relationship before studying genotype-phenotype correlation.
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