Frontiers in Genetics (Mar 2022)
Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis
- Bo Liang,
- Bo Liang,
- Bo Liang,
- Bo Liang,
- Bo Liang,
- Bo Liang,
- He Huang,
- He Huang,
- He Huang,
- He Huang,
- He Huang,
- Jiaxiang Zhang,
- Gang Chen,
- Gang Chen,
- Gang Chen,
- Gang Chen,
- Gang Chen,
- Xiangsheng Kong,
- Mengting Zhu,
- Peiguang Wang,
- Peiguang Wang,
- Peiguang Wang,
- Peiguang Wang,
- Peiguang Wang,
- Lili Tang,
- Lili Tang,
- Lili Tang,
- Lili Tang,
- Lili Tang
Affiliations
- Bo Liang
- Department of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Bo Liang
- Department of Clinical Laboratory, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Bo Liang
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Bo Liang
- Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China
- Bo Liang
- State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China
- Bo Liang
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- He Huang
- Department of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- He Huang
- Institute of Dermatology, Anhui Medical University, Hefei, China
- He Huang
- Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China
- He Huang
- State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China
- He Huang
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- Jiaxiang Zhang
- Department of Occupational Health and Environment Health, School of Public Health, Anhui Medical University, Hefei, China
- Gang Chen
- Department of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Gang Chen
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Gang Chen
- Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China
- Gang Chen
- State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China
- Gang Chen
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- Xiangsheng Kong
- Aberlong Biological Technology Co., Ltd., Shanghai, China
- Mengting Zhu
- Department of Clinical Medical, the First Clinical Medical College, Anhui Medical University, Hefei, China
- Peiguang Wang
- Department of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Peiguang Wang
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Peiguang Wang
- Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China
- Peiguang Wang
- State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China
- Peiguang Wang
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- Lili Tang
- Department of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei, China
- Lili Tang
- Institute of Dermatology, Anhui Medical University, Hefei, China
- Lili Tang
- Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China
- Lili Tang
- State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China
- Lili Tang
- Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China
- DOI
- https://doi.org/10.3389/fgene.2022.847321
- Journal volume & issue
-
Vol. 13
Abstract
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.
Keywords
