Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India

Lipoid congenital adrenal hyperplasia (LCAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. We report novel molecular findings of three unrelated infants with LCAH diagnosed at our center. A known missense mutation c.653C>T (p.A218V) and two novel mutations [premature t...

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Autores principales: Vasudevan, Lakshmi, Joshi, Rajesh, Kumar Das, Dhanjit, Rao, Sudha, Sanghavi, Daksha, Babu, Shiny, Tamhankar, Parag M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2013
Materias:
Rapid Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3701918/
https://www.ncbi.nlm.nih.gov/pubmed/23748066
http://dx.doi.org/10.4274/Jcrpe.927
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author Vasudevan, Lakshmi
Joshi, Rajesh
Kumar Das, Dhanjit
Rao, Sudha
Sanghavi, Daksha
Babu, Shiny
Tamhankar, Parag M.
author_facet Vasudevan, Lakshmi
Joshi, Rajesh
Kumar Das, Dhanjit
Rao, Sudha
Sanghavi, Daksha
Babu, Shiny
Tamhankar, Parag M.
author_sort Vasudevan, Lakshmi
collection PubMed
description Lipoid congenital adrenal hyperplasia (LCAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. We report novel molecular findings of three unrelated infants with LCAH diagnosed at our center. A known missense mutation c.653C>T (p.A218V) and two novel mutations [premature termination c.441G>A (or p.W147X) and frameshift deletion c.del815G (or p.R272PfsX35)] were identified after complete sequencing of the STAR gene. Prenatal diagnosis was carried out for the family with mutation c.815delG by molecular testing wherein the fetus was found to be homozygous for the mutation. This is the first report of molecular diagnosis and prenatal testing for LCAH from India. Conflict of interest:None declared.
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spelling pubmed-37019182013-07-12 Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India Vasudevan, Lakshmi Joshi, Rajesh Kumar Das, Dhanjit Rao, Sudha Sanghavi, Daksha Babu, Shiny Tamhankar, Parag M. J Clin Res Pediatr Endocrinol Rapid Communication Lipoid congenital adrenal hyperplasia (LCAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. We report novel molecular findings of three unrelated infants with LCAH diagnosed at our center. A known missense mutation c.653C>T (p.A218V) and two novel mutations [premature termination c.441G>A (or p.W147X) and frameshift deletion c.del815G (or p.R272PfsX35)] were identified after complete sequencing of the STAR gene. Prenatal diagnosis was carried out for the family with mutation c.815delG by molecular testing wherein the fetus was found to be homozygous for the mutation. This is the first report of molecular diagnosis and prenatal testing for LCAH from India. Conflict of interest:None declared. Galenos Publishing 2013-06 2013-05-30 /pmc/articles/PMC3701918/ /pubmed/23748066 http://dx.doi.org/10.4274/Jcrpe.927 Text en © Journal of Clinical Research in Pediatric Endocrinology, Published by Galenos Publishing. http://creativecommons.org/licenses/by/2.5/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Rapid Communication
Vasudevan, Lakshmi
Joshi, Rajesh
Kumar Das, Dhanjit
Rao, Sudha
Sanghavi, Daksha
Babu, Shiny
Tamhankar, Parag M.
Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India
title Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India
title_full Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India
title_fullStr Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India
title_full_unstemmed Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India
title_short Identification of Novel Mutations in STAR Gene in Patients with Lipoid Congenital Adrenal Hyperplasia: A First Report from India
title_sort identification of novel mutations in star gene in patients with lipoid congenital adrenal hyperplasia: a first report from india
topic Rapid Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3701918/
https://www.ncbi.nlm.nih.gov/pubmed/23748066
http://dx.doi.org/10.4274/Jcrpe.927
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