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Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis

The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease, whch is associated with a decrease in the lipolysis activity in multiple tissue cells. The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central...

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Autores principales: Liang, Bo, Huang, He, Zhang, Jiaxiang, Chen, Gang, Kong, Xiangsheng, Zhu, Mengting, Wang, Peiguang, Tang, Lili
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8996135/
https://www.ncbi.nlm.nih.gov/pubmed/35419035
http://dx.doi.org/10.3389/fgene.2022.847321
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author Liang, Bo
Huang, He
Zhang, Jiaxiang
Chen, Gang
Kong, Xiangsheng
Zhu, Mengting
Wang, Peiguang
Tang, Lili
author_facet Liang, Bo
Huang, He
Zhang, Jiaxiang
Chen, Gang
Kong, Xiangsheng
Zhu, Mengting
Wang, Peiguang
Tang, Lili
author_sort Liang, Bo
collection PubMed
description The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease, whch is associated with a decrease in the lipolysis activity in multiple tissue cells. The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central nervous system. Mutations in ABHD5/CGI58 gene have been confirmed to be associated with CDS. We performed whole exome sequencing on a Chinese CDS patient with skin ichthyosis features mimicking lamellar ichthyosis, ectropion, sensorineural hearing loss, and lipid storage in peripheral blood neutrophils. A novel homozygous missense mutation (p.L154R) in ABHD5 gene was detected in this patient. Genotype-phenotype analysis in reported CDS patients revealed no particular correlation. Our findings further enrich the reservoir of ABHD5 mutations in CDS.
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spelling pubmed-89961352022-04-12 Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis Liang, Bo Huang, He Zhang, Jiaxiang Chen, Gang Kong, Xiangsheng Zhu, Mengting Wang, Peiguang Tang, Lili Front Genet Genetics The Chanarin–Dorfman syndrome (CDS) is a rare, autosomal recessively inherited genetic disease, whch is associated with a decrease in the lipolysis activity in multiple tissue cells. The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central nervous system. Mutations in ABHD5/CGI58 gene have been confirmed to be associated with CDS. We performed whole exome sequencing on a Chinese CDS patient with skin ichthyosis features mimicking lamellar ichthyosis, ectropion, sensorineural hearing loss, and lipid storage in peripheral blood neutrophils. A novel homozygous missense mutation (p.L154R) in ABHD5 gene was detected in this patient. Genotype-phenotype analysis in reported CDS patients revealed no particular correlation. Our findings further enrich the reservoir of ABHD5 mutations in CDS. Frontiers Media S.A. 2022-03-28 /pmc/articles/PMC8996135/ /pubmed/35419035 http://dx.doi.org/10.3389/fgene.2022.847321 Text en Copyright © 2022 Liang, Huang, Zhang, Chen, Kong, Zhu, Wang and Tang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Liang, Bo
Huang, He
Zhang, Jiaxiang
Chen, Gang
Kong, Xiangsheng
Zhu, Mengting
Wang, Peiguang
Tang, Lili
Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis
title Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis
title_full Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis
title_fullStr Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis
title_full_unstemmed Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis
title_short Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis
title_sort case report: chanarin-dorfman syndrome: a novel homozygous mutation in abhd5 gene in a chinese case and genotype-phenotype correlation analysis
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8996135/
https://www.ncbi.nlm.nih.gov/pubmed/35419035
http://dx.doi.org/10.3389/fgene.2022.847321
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