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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.
Liang, Bo; Huang, He; Zhang, Jiaxiang; Chen, Gang; Kong, Xiangsheng; Zhu, Mengting; Wang, Peiguang; Tang, Lili.
Afiliação
  • Liang B; Department of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei, China.
  • Huang H; Department of Clinical Laboratory, The First Affiliated Hospital, Anhui Medical University, Hefei, China.
  • Zhang J; Institute of Dermatology, Anhui Medical University, Hefei, China.
  • Chen G; Key Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, China.
  • Kong X; State Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, China.
  • Zhu M; Inflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, China.
  • Wang P; Department of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei, China.
  • Tang L; Institute of Dermatology, Anhui Medical University, Hefei, China.
Front Genet ; 13: 847321, 2022.
Article em En | MEDLINE | ID: mdl-35419035
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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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Genet Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Genet Ano de publicação: 2022 Tipo de documento: Article