Three novel variants in X-linked adrenoleukodystrophy.
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.
Shukla
Pallavi
P
Genetics Division, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
Gupta
Neerja
N
Kabra
Madhulika
M
Ghosh
Manju
M
Sharma
Raju
R
Gupta
Arun K
AK
Gulati
Sheffali
S
Kalra
Veena
V
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
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D018389:Codon, Nonsense