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Updated: Jun 23, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Three novel variants in X-linked adrenoleukodystrophy
Pallavi Shukla1, Neerja Gupta, Madhulika Kabra
1Genetics Division, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
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.
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