Publications by authors named "L V Ravichandran"
Objectives: Whole exome sequencing (WES) has emerged as the preferred method for diagnosing a range of Mendelian disorders. Nonetheless, the applicability of WES in genetic diagnosis of 21-hydroxylase deficiency (21-OHD) remains uncertain due to the intricacies involved in molecular analysis of the CYP21A2 gene.
Methods: In this case series, authors report the outcomes of couples or families who underwent WES followed by focused sequential strategy (FSS) targeting CYP21A2 gene hotspot mutations and targeted sequencing of genes associated with Congenital Adrenal Hyperplasia (CAH).
Congenital adrenal hyperplasia (CAH) comprises a heterogeneous group of autosomal recessive disorders impairing adrenal steroidogenesis. Most cases are caused by mutations in the gene resulting in 21-hydroxylase (21-OH) deficiency (21-OHD). The genetics of 21-OH CAH is complexed by a highly homologous pseudogene imposing several limitations in the molecular analysis.
View Article and Find Full Text PDFObjectives: To evaluate the clinical, hormonal and genetic characteristics of 46XY disorders of sexual development (DSD) patients from South India.
Methods: 46XY DSD patients with a provisional diagnosis of 17β-hydroxysteroid dehydrogenase 3 (17BHSD3) deficiency, 5 alpha-reductase type 2 deficiency (5ARD2) or partial androgen insensitivity syndrome (PAIS) based on clinical and hormonal analysis were included in this study. All the patients underwent detailed clinical and hormonal evaluations.
Article Synopsis
- Epidermodysplasia verruciformis (EV) is a rare genetic skin disorder caused by mutations in the EVER1 and EVER2 genes, and this study focuses on the genetic characteristics in Indian patients for the first time.* -
- Researchers analyzed a family with EV, using PCR techniques to identify a significant 2078 bp deletion in the EVER1 gene that causes a frameshift and results in severe symptoms in affected individuals.* -
- The study’s findings aid in genetic counseling and early diagnosis, although more extensive research and functional tests are needed to explore genetic variation in the Indian EV population.*
Mutations in BRCA1 and BRCA2 significantly elevate the risk of developing breast and ovarian cancer. Limited data exists regarding the prevalence of BRCA mutations, and optimal, cost-effective testing strategies in developing countries like India. This study aimed to evaluate the utility of a Next Generation Sequencing (NGS) panel for BRCA1/2 mutation testing among women diagnosed with, or at risk of developing hereditary breast and ovarian cancers.
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