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.

Keywords

adrenoleukodystrophy mutation peroxisomal

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