alexa An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree | OMICS International
ISSN: 1747-0862

Journal of Molecular and Genetic Medicine
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Research Article

An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree

Masoud Mehrpour1, Faeze Gohari2, Majid Zaki Dizaji3, Ali Ahani2, May Christine V. Malicdan5 and Babak Behnam4,5*

1Department of Neurology, Firoozgar Hospital, Iran University of medical sciences (IUMS), Tehran, Iran

2Medical Student Research Committee (MSRC), Faculty of Medicine, Iran University of medical sciences (IUMS), Tehran, Iran

3Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences (TUMS), Tehran, Iran

4Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran

4NIH Undiagnosed Diseases Program, National Human Genome Research Institute (NHGRI), National Institutes of Health, Bethesda, Maryland, USA

*Corresponding Author:
Babak Behnam
NIH Undiagnosed Diseases Program
National Human Genome Research Institute (NHGRI)
National Institute of Health (NIH)
Bethesda, MD 20892, USA
Tel: 3015945182
Fax: 3014800804
E-mail: [email protected]

Received date: May 03, 2016; Accepted date: June 14, 2016; Published date: June 19, 2016

Citation: Mehrpour M, Gohari F, Dizaji MZ, Ahani A, Malicdan MCV, et al. (2016) An ABCD1 Mutation (c.253dupC) Caused Diverse Phenotypes of Adrenoleukodystrophy in an Iranian Consanguineous Pedigree. J Mol Genet Med 10:222. doi:10.4172/1747-0862.1000222

Copyright: © 2016 Mehrpour M, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Objectives: Current study was the first to report a consanguineous Iranian pedigree with ABCD1 mutation.

Methods: Targeted molecular analysis was initially performed in three affected individuals in one family suspected to have X-ALD due to chronic progressive spasticity. Upon confirmation of genetic diagnosis, further neurologic and genetic evaluation of all family members was done.

Results: A mutation in ABCD1 was identified in 35 affected individuals (out 96 pedigree members). The c. 253dup, in exon 1, leads to a frame shift and a premature stop codon at amino acid position 194 (p.Arg85Profs*110). Surprisingly, affected individuals in our cohort show some variability in phenotype, including childhood cerebral ALD, adrenomyeloneuropathy, and addison-only disease phenotypes, expanding the phenotype of X-ALD with p.Arg85Profs*110.

Conclusion: This report characterizes the clinical spectrum of an expanded Iranian pedigree with X-ALD due to an ABCD1 mutation. Given a high frequency of carriers in this region, we expect the prevalence of X-ALD to be higher, underscoring the importance of genetic counseling through reliable identification of heterozygous as well as homozygote females in consanguineous communities.

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