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Licensed Unlicensed Requires Authentication Published by De Gruyter October 30, 2019

Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy

Babak Emamalizadeh, Yousef Daneshmandpour, Abbas Tafakhori, Sakineh Ranji-Burachaloo, Sajad Shafiee, Elahe Ghods and Hossein Darvish



X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the ABCD1 gene located on Xq28. X-ALD is characterized by a spectrum of different manifestations varying in patients and families.


Four pedigrees with X-ALD consisting of patients and healthy members were selected for investigation of ABCD1 gene mutations. The mutation analysis was performed by polymerase chain reaction (PCR) followed by direct sequencing of all exons. The identified mutations were investigated using bioinformatics tools to predict their effects on the protein product and also to compare the mutated sequence with close species.


One previously known missense mutation (c.1978 C > T) and three novel mutations (c.1797dupT, c.879delC, c.1218 C > G) were identified in the ABCD1 gene, each in one family. Predicting the effects of the mutations on protein structure and function indicated the probable damaging effect for them with significant alterations in the protein structure. We found three novel mutations in the ABCD1 gene with damaging effects on its protein product and responsible for X-ALD.

Corresponding author: Hossein Darvish, PhD, Department of Medical Genetics, School of Medicine, Semnan University of Medical Sciences, Semnan, Iran; and Cancer Research Center, Semnan University of Medical Sciences, Semnan, Iran, Fax: +982122389941

Funding source: Tabriz University of Medical Sciences

Award Identifier / Grant number: 61680

Funding statement: This work was supported by Research Vice-Chancellor, Tabriz University of Medical Sciences, Funder Id:, grant code 61680.


We thank all patients and their families for participating in this research. We also thank all staff and laboratory members in Tabriz University of Medical Sciences who participated in this work.

  1. Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

  2. Employment or leadership: None declared.

  3. Honorarium: None declared.

  4. Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


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Received: 2019-06-01
Accepted: 2019-07-04
Published Online: 2019-10-30
Published in Print: 2019-11-26

©2019 Walter de Gruyter GmbH, Berlin/Boston

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