title: Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India.
abstract: 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.
authors.affiliation: Genetic Research Center, National Institute for Research in Reproductive Health, JM Street, Parel, Mumbai.
authors.forename: Lakshmi
authors.initials: L
authors.lastname: Vasudevan
authors.forename: Rajesh
authors.initials: R
authors.lastname: Joshi
authors.forename: Dhanjit Kumar
authors.initials: DK
authors.lastname: Das
authors.forename: Sudha
authors.initials: S
authors.lastname: Rao
authors.forename: Daksha
authors.initials: D
authors.lastname: Sanghavi
authors.forename: Shiny
authors.initials: S
authors.lastname: Babu
authors.forename: Parag M
authors.initials: PM
authors.lastname: Tamhankar
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000235:genetics*; D000595:Amino Acid Sequence; D001483:Base Sequence; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D058490:Disorder of Sex Development, 46,XY / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007194:India; D007223:Infant; D007231:Infant, Newborn; D059785:Karyotype; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D010750:Phosphoproteins / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D000098682:Steroidogenic Acute Regulatory Protein
chemical_list: D018389:Codon, Nonsense; D010750:Phosphoproteins; D000098682:Steroidogenic Acute Regulatory Protein