title: Molecular analysis of ABCD1 gene in Indian patients with X-linked adrenoleukodystrophy.
abstract: BACKGROUND
  X-linked Adrenoleukodystrophy (X-ALD), with an incidence of 1:14,000 is the most frequent monogenic demyelinating disorder worldwide. The principal biochemical abnormality in X-ALD is the increased levels of saturated, unbranched very long chain fatty acids (VLCFA). It is caused by mutations in ABCD1 gene. No molecular data on X-ALD is available in India and mutational spectrum in Indian patients is not known.
  
  
  METHODS
  We standardized conformation sensitive gel electrophoresis (CSGE) method to detect mutations in ABCD1 gene in twenty Indian patients with X-ALD. The results were confirmed by sequencing. Genotype-phenotype correlation was also attempted. Prenatal diagnosis (PND) in one family was done using chorionic villi (CV) sample at 12 weeks of gestation.
  
  
  RESULTS
  Out of twenty, causative mutations could be identified in twelve patients (60%). Six reported and four novel mutations were identified. Three polymorphisms were also observed. No hot spot was found. No significant genotype-phenotype correlation could be established.
  
  
  CONCLUSIONS
  The study identified the mutation spectrum of Indian X-ALD patients, which enabled us to offer accurate genetic counseling, carrier detection and prenatal diagnosis where needed.
authors: Genetics division, Department of Pediatrics, All India Institute of Medical Sciences (AIIMS), New Delhi 110029 India.
authors: Pallavi
authors: P
authors: Shukla
authors: Neerja
authors: N
authors: Gupta
authors: Sheffali
authors: S
authors: Gulati
authors: Manju
authors: M
authors: Ghosh
authors: Suman
authors: S
authors: Vasisht
authors: Raju
authors: R
authors: Sharma
authors: Arun K
authors: AK
authors: Gupta
authors: Veena
authors: V
authors: Kalra
authors: Madhulika
authors: M
authors: Kabra
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D007194:India; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters