title: Three novel variants in X-linked adrenoleukodystrophy.
abstract: X-linked adrenoleukodystrophy is an inherited neurological disorder caused by mutations in the ABCD1 gene (located on chromosome Xq28) encoding adrenoleukodystrophy protein which is involved in the transport of substrates from the cytoplasm into the peroxisomal lumen. There is a scarcity of reports on mutation analysis of X-linked adrenoleukodystrophy from India. Here, we report 3 novel variants (c.67_83del17, c.395G>A, c.1938_1939dupGG) in 3 unrelated Indian families.
authors.affiliation: Genetics Division, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
authors.forename: Pallavi
authors.initials: P
authors.lastname: Shukla
authors.forename: Neerja
authors.initials: N
authors.lastname: Gupta
authors.forename: Madhulika
authors.initials: M
authors.lastname: Kabra
authors.forename: Manju
authors.initials: M
authors.lastname: Ghosh
authors.forename: Raju
authors.initials: R
authors.lastname: Sharma
authors.forename: Arun K
authors.initials: AK
authors.lastname: Gupta
authors.forename: Sheffali
authors.initials: S
authors.lastname: Gulati
authors.forename: Veena
authors.initials: V
authors.lastname: Kalra
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics*; D000328:Adult; D002648:Child; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005190:Family; D016368:Frameshift Mutation; D014644:Genetic Variation; D006801:Humans; D007194:India; D008297:Male; D055815:Young Adult
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D018389:Codon, Nonsense