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Three Novel Variants in X-linked Adrenoleukodystrophy

Genetics Division, Department Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India

Neerja Gupta, DM

Genetics Division, Department Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India

Madhulika Kabra, MD

Genetics Division, Department Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India, kabra{at}hotmail.com

Manju Ghosh, MD

Genetics Division, Department Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India

Raju Sharma, MD

Department of Radio Diagnosis, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India

Arun K. Gupta, MD

Department of Radio Diagnosis, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India

Sheffali Gulati, MD

Division of Neurology, Department of Pediatrics All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India

Veena Kalra, MD

Genetics Division, Department of Pediatrics, and the Division of Neurology, Department of Pediatrics, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India

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.

Key Words: adrenoleukodystrophy • mutation • peroxisomal

This version was published on July 1, 2009

Journal of Child Neurology, Vol. 24, No. 7, 857-860 (2009)
DOI: 10.1177/0883073808330764


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