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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Frontiers Media S.A.
2022-03-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.847321/full |
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| author | 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 |
| author_facet | 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 |
| author_sort | Bo Liang |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-22T21:36:49Z |
| format | Article |
| id | doaj.art-754efdca72164d39be0d9b2cdbfa8719 |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-22T21:36:49Z |
| publishDate | 2022-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-754efdca72164d39be0d9b2cdbfa87192022-12-21T18:11:43ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-03-011310.3389/fgene.2022.847321847321Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation AnalysisBo Liang0Bo Liang1Bo Liang2Bo Liang3Bo Liang4Bo Liang5He Huang6He Huang7He Huang8He Huang9He Huang10Jiaxiang Zhang11Gang Chen12Gang Chen13Gang Chen14Gang Chen15Gang Chen16Xiangsheng Kong17Mengting Zhu18Peiguang Wang19Peiguang Wang20Peiguang Wang21Peiguang Wang22Peiguang Wang23Lili Tang24Lili Tang25Lili Tang26Lili Tang27Lili Tang28Department of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei, ChinaDepartment of Clinical Laboratory, The First Affiliated Hospital, Anhui Medical University, Hefei, ChinaInstitute of Dermatology, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaInflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, ChinaDepartment of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei, ChinaInstitute of Dermatology, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaInflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, ChinaDepartment of Occupational Health and Environment Health, School of Public Health, Anhui Medical University, Hefei, ChinaDepartment of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei, ChinaInstitute of Dermatology, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaInflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, ChinaAberlong Biological Technology Co., Ltd., Shanghai, ChinaDepartment of Clinical Medical, the First Clinical Medical College, Anhui Medical University, Hefei, ChinaDepartment of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei, ChinaInstitute of Dermatology, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaInflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, ChinaDepartment of Dermatology and Venereology, The First Affiliated Hospital, Anhui Medical University, Hefei, ChinaInstitute of Dermatology, Anhui Medical University, Hefei, ChinaKey Laboratory of Dermatology (Anhui Medical University), Ministry of Education, Hefei, ChinaState Key Laboratory Incubation Base of Dermatology, Anhui Medical University, Hefei, ChinaInflammation and Immune Mediated Diseases Laboratory of Anhui Province, Hefei, ChinaThe 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.https://www.frontiersin.org/articles/10.3389/fgene.2022.847321/fullichthyosisABHD5/CGI-58 geneChineseJordan’s anomalyChanarin-Dorfman syndrome |
| spellingShingle | 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 Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis Frontiers in Genetics ichthyosis ABHD5/CGI-58 gene Chinese Jordan’s anomaly Chanarin-Dorfman syndrome |
| 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 | ichthyosis ABHD5/CGI-58 gene Chinese Jordan’s anomaly Chanarin-Dorfman syndrome |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.847321/full |
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