1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-19-60-a 10.15844/pedneurbriefs-19-8-5 Degenerative and Demyelinating Diseases Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant ABCD1 Gene Mutations in Chinese Patients with ALD http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 08 2005 01 03 2016 19 8 60 60 Copyright: © 2005 The Author(s) 2005 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy

Thirty-two different ABCD1 mutations were identified by direct sequencing of polymerase chain reaction products in 34 unrelated Chinese X-linked adrenoleukodystrophy (ALD) patients examined at Peking University First Hospital, Beijing, PRC.

 Adrenoleukodystrophy ABCD1 Mutations Polymerase Chain Reaction Products

Thirty-two different ABCD1 mutations were identified by direct sequencing of polymerase chain reaction products in 34 unrelated Chinese X-linked adrenoleukodystrophy (ALD) patients examined at Peking University First Hospital, Beijing, PRC. Eight of 10 screened sisters and cousins were carriers. Mutational heterogeneity is prevalent in Chinese patients with ALD, a finding consistent with other populations. Mutational analysis of ABCVD1 gene is of value in counseling of ALD families. [1]

COMMENT. Direct sequencing of polymerase chain reaction products is a simple and efficient method for diagnostic mutational analysis of the ABCD1 gene found in the majority of X-linked ALD patients. X-linked ALD is transmitted maternally, and analysis of the ABCD1 gene in women with an affected family member can determine the risk of transmission to offspring, of help in genetic counseling.

Pan H Xiong H Wu Y Zhang YH Bao XH Jiang YW ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy Pediatr Neurol 2005 Aug 33 2 114 120 10.1016/j.pediatrneurol.2005.03.006 16087056