Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Experimental and Therapeutic Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-0981 Online ISSN: 1792-1015
Journal Cover
September-2022 Volume 24 Issue 3

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
September-2022 Volume 24 Issue 3

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML
Article Open Access

X‑linked adrenoleukodystrophy caused by maternal ABCD1 mutation and paternal X chromosome inactivation

  • Authors:
    • Zhen Li
    • Guangrui Lai
  • View Affiliations / Copyright

    Affiliations: Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, Liaoning 110004, P.R. China, Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, Liaoning 110004, P.R. China
    Copyright: © Li et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Article Number: 565
    |
    Published online on: July 12, 2022
       https://doi.org/10.3892/etm.2022.11502
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

X‑linked adrenoleukodystrophy (X‑ALD) is the most common peroxisomal disorder. It is caused by defects in the ATP‑binding cassette subfamily D member 1 (ABCD1) gene, resulting in impaired peroxisomal β‑oxidation of very‑long‑chain fatty acids (VLCFAs). As an X‑linked recessive disease, female X‑ALD carriers are typically asymptomatic. In the present study, a 7‑year‑old girl was diagnosed with cerebral ALD. Brain magnetic resonance imaging revealed asymmetric demyelination of bilateral white matter. Plasma VLCFAs level showed a substantial increase. Whole exome and Sanger sequencing revealed an ABCD1 c.919C>T (p.Q307X) heterozygous pathogenic mutation, which was inherited from the asymptomatic mother. X chromosome inactivation (XCI) analysis revealed that the normal paternal X chromosome was almost completely inactivated. Thus, the maternal ABCD1 mutation and paternal XCI were responsible for causing the disease in the patient. XCI may be one reason female X‑ALD carriers can be symptomatic.
View Figures

Figure 1

Figure 2

Figure 3

View References

1 

Zhu J, Eichler F, Biffi A, Duncan CN, Williams DA and Majzoub JA: The changing face of adrenoleukodystrophy. Endocr Rev. 41:577–593. 2020.PubMed/NCBI View Article : Google Scholar

2 

Palakuzhiyil SV, Christopher R and Chandra SR: Deciphering the modifiers for phenotypic variability of X-linked adrenoleukodystrophy. World J Biol Chem. 11:99–111. 2020.PubMed/NCBI View Article : Google Scholar

3 

Schmidt S, Träber F, Block W, Keller E, Pohl C, von Oertzen J, Schild H, Schlegel U and Klockgether T: Phenotype assignment in symptomatic female carriers of X-linked adrenoleukodystrophy. J Neurol. 248:36–44. 2001.PubMed/NCBI View Article : Google Scholar

4 

Engelen M, Barbier M, Dijkstra IM, Schür R, de Bie RM, Verhamme C, Dijkgraaf MG, Aubourg PA, Wanders RJ, van Geel BM, et al: X-linked adrenoleukodystrophy in women: A cross-sectional cohort study. Brain. 137:693–706. 2014.PubMed/NCBI View Article : Google Scholar

5 

Salsano E, Tabano S, Sirchia SM, Colapietro P, Castellotti B, Gellera C, Rimoldi M, Pensato V, Mariotti C, Pareyson D, et al: Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms. Orphanet J Rare Dis. 7(10)2012.PubMed/NCBI View Article : Google Scholar

6 

Ye YJ, Liu B and Qin BZ: Clinical analysis of patients of cirrhosis complicated with adrenal insufficiency. Eur Rev Med Pharmacol Sci. 20:2667–2672. 2016.PubMed/NCBI

7 

Hadj Ahmed S, Koubaa N, Kharroubi W, Zarrouk A, Mnari A, Batbout F, Gamra H, Hammami S, Lizard G and Hammami M: Identification of long and very long chain fatty acids, plasmalogen-C16:0 and phytanic acid as new lipid biomarkers in Tunisian coronary artery disease patients. Prostaglandins Other Lipid Mediat. 131:49–58. 2017.PubMed/NCBI View Article : Google Scholar

8 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al: Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for molecular pathology. Genet Med. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar

9 

He WB, Du J, Xie PY, Zhou S, Zhang YX, Lu GX, Lin G, Li W and Tan YQ: X-chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations. PrenatDiagn. 39:603–608. 2019.PubMed/NCBI View Article : Google Scholar

10 

Olgac A, Kasapkara ÇS, Derinkuyu B, Yüksel D, Çetinkaya S, Aksoy A, Ceylaner S, Güleray N, Yeşilipek A, Aydın Hİ, et al: Retrospective evaluation of patients with X-linked adrenoleukodystrophy with a wide range of clinical presentations: A single center experience. J Pediatr Endocrinol Metab. 34:1169–1179. 2021.PubMed/NCBI View Article : Google Scholar

11 

Engelen M, Kemp S, de Visser M, van Geel BM, Wanders RJ, Aubourg P and Poll-The BT: X-linked adrenoleukodystrophy (X-ALD): Clinical presentation and guidelines for diagnosis, follow-up and management. Orphanet J Rare Dis. 7(51)2012.PubMed/NCBI View Article : Google Scholar

12 

Mohn A, Polidori N, Aiello C, Rizzo C, Giannini C, Chiarelli F and Cappa M: ABCD1 gene mutation in an Italian family with X-linkedadrenoleukodystrophy: Case series. Endocrinol Diabetes Metab Case Rep. 2021:20–0125. 2021.PubMed/NCBI View Article : Google Scholar

13 

Moser HW, Loes DJ, Melhem ER, Raymond GV, Bezman L, Cox CS and Lu SE: X-Linked adrenoleukodystrophy: Overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients. Neuropediatrics. 31:227–239. 2000.PubMed/NCBI View Article : Google Scholar

14 

ALD info: The information platform to all aspects of adrenoleukodystrophy and the worldwide registry for ABCD1 variants. https://adrenoleukodystrophy.info/. Accessed March 1, 2022.

15 

Campopiano R, Femiano C, Chiaravalloti MA, Ferese R, Centonze D, Buttari F, Zampatti S, Fanelli M, Amatori S, D'Alessio C, et al: A large family with p.Arg554His mutation in ABCD1: Clinical features and genotype/phenotype correlation in female carriers. Genes (Basel). 12(775)2021.PubMed/NCBI View Article : Google Scholar

16 

Horn MA, Retterstøl L, Abdelnoor M, Skjeldal OH and Tallaksen CM: Adrenoleukodystrophy in Norway: High rate of de novo mutations and age-dependent penetrance. Pediatr Neurol. 48:212–219. 2013.PubMed/NCBI View Article : Google Scholar

17 

Penman RW: Addison's disease in association with spastic paraplegia. Br Med J. 1(402)1960.PubMed/NCBI View Article : Google Scholar

18 

Shvetsova E, Sofronova A, Monajemi R, Gagalova K, Draisma HHM, White SJ, Santen GWE, Chuva de Sousa Lopes SM, Heijmans BT, van Meurs J, et al: Skewed X-inactivation is common in the general female population. Eur J Hum Genet. 27:455–465. 2019.PubMed/NCBI View Article : Google Scholar

19 

Pereira G and Dória S: X-chromosome inactivation: Implications in human disease. J Genet. 100(63)2021.PubMed/NCBI

20 

Wang Z, Yan A, Lin Y, Xie H, Zhou C and Lan F: Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree. PLoS One. 8(e57977)2013.PubMed/NCBI View Article : Google Scholar

21 

Maier EM, Kammerer S, Muntau AC, Wichers M, Braun A and Roscher AA: Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation. Ann Neurol. 52:683–688. 2002.PubMed/NCBI View Article : Google Scholar

22 

Watkiss E, Webb T and Bundey S: Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy? J Med Genet. 30:651–654. 1993.PubMed/NCBI View Article : Google Scholar

23 

Yang C, Yu Z, Zhang W, Cao L, Ouyang W, Hu F, Zhang P, Bai X and Ruan C: A novel missense mutation, p. Phe360Cys, in FIX gene results in haemophilia B in a female patient with skewed X-inactivation. Haemophilia. 24:e68–e70. 2018.PubMed/NCBI View Article : Google Scholar

24 

Miller CH and Bean CJ: Genetic causes of haemophilia in women and girls. Haemophilia. 27:e164–e179. 2021.PubMed/NCBI View Article : Google Scholar

25 

Viggiano E, Picillo E, Ergoli M, Cirillo A, Del Gaudio S and Politano L: Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy. J Gene Med. 19:2017.PubMed/NCBI View Article : Google Scholar

26 

Viggiano E, Ergoli M, Picillo E and Politano L: Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy. Hum Genet. 135:685–698. 2016.PubMed/NCBI View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Li Z and Lai G: X‑linked adrenoleukodystrophy caused by maternal ABCD1 mutation and paternal X chromosome inactivation. Exp Ther Med 24: 565, 2022.
APA
Li, Z., & Lai, G. (2022). X‑linked adrenoleukodystrophy caused by maternal ABCD1 mutation and paternal X chromosome inactivation. Experimental and Therapeutic Medicine, 24, 565. https://doi.org/10.3892/etm.2022.11502
MLA
Li, Z., Lai, G."X‑linked adrenoleukodystrophy caused by maternal ABCD1 mutation and paternal X chromosome inactivation". Experimental and Therapeutic Medicine 24.3 (2022): 565.
Chicago
Li, Z., Lai, G."X‑linked adrenoleukodystrophy caused by maternal ABCD1 mutation and paternal X chromosome inactivation". Experimental and Therapeutic Medicine 24, no. 3 (2022): 565. https://doi.org/10.3892/etm.2022.11502
Copy and paste a formatted citation
x
Spandidos Publications style
Li Z and Lai G: X‑linked adrenoleukodystrophy caused by maternal ABCD1 mutation and paternal X chromosome inactivation. Exp Ther Med 24: 565, 2022.
APA
Li, Z., & Lai, G. (2022). X‑linked adrenoleukodystrophy caused by maternal ABCD1 mutation and paternal X chromosome inactivation. Experimental and Therapeutic Medicine, 24, 565. https://doi.org/10.3892/etm.2022.11502
MLA
Li, Z., Lai, G."X‑linked adrenoleukodystrophy caused by maternal ABCD1 mutation and paternal X chromosome inactivation". Experimental and Therapeutic Medicine 24.3 (2022): 565.
Chicago
Li, Z., Lai, G."X‑linked adrenoleukodystrophy caused by maternal ABCD1 mutation and paternal X chromosome inactivation". Experimental and Therapeutic Medicine 24, no. 3 (2022): 565. https://doi.org/10.3892/etm.2022.11502
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team