Ann Dermatol.
2022 Apr;34(2):139-143. 10.5021/ad.2022.34.2.139.
A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis
- Affiliations
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- 1Department of Dermatology, Shandong Provinical Hospital for Skin Diseases, Cheeloo College of Medicine, Shandong University, Jinan, China
- 2Department of Dermatology, Shandong Provinical Hospital for Skin Diseases, Shandong First Medical University, 3 Shandong Provincial Institute of Dermatology and Venereology, Jinan, China
- KMID: 2527468
- DOI: http://doi.org/10.5021/ad.2022.34.2.139
Abstract
- Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant genetic disorder characterized by distinctive craniofacial features, skeletal abnormalities and short stature; it is classified into three subtypes according to genetics and clinical manifestations. We report a Han Chinese family with 2 TRPS type III patients, the proband and his mother, with typical clinical presentation. There were also 3 ankylosing spondylitis (AS) patients in this family, the proband’s mother and 2 uncles. A missense mutation, c.2762G>A (p.Arg921Gln), in the transcriptional repressor GATA binding 1 (TRPS1) gene was detected in the proband and his mother. The association between TRPS and AS and the diagnostic criteria for TRPS are discussed.
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