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KMID : 0032220220340020139
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Annals of Dermatology
2022 Volume.34 No. 2 p.139 ~ p.143
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A Missense Mutation in TRPS1 in a Family with Trichorhinophalangeal Syndrome Type III Accompanied by Ankylosing Spondylitis
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Fang Xiaokai
Yang Qing
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Abstract
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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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KEYWORD
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Chinese Han family, Mutation, missense, Spondylitis, ankylosing, Trichorhinophalangeal syndrome type III, TRPS1
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