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首页> 外文期刊>Case Reports in Genetics >Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene
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Trichorhinophalangeal Syndrome Type I: A Patient with Two Novel and Different Mutations in the TRPS1 Gene

机译：I型口鼻咽喉综合征：患有TRPS1基因的两个新颖且不同突变的患者

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Background. Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant skeletal dysplasia caused by defects involving the TRPS1 gene. Three types (TRPSs I, II, and III) have been described, exhibiting the common triad of hair, craniofacial, and skeletal abnormalities. TRPS II includes the additional characteristics of mental retardation and multiple exostoses.Case Report. We describe a sporadic case of TRPS type I in a child with two novel nonsense pathogenic mutations in the TRPS1 gene, both in heterozygosity—c.1198C>T (p. Gln400X) and c.2086C>T (p.Arg696X). None of these mutations were found in her parents. Clinical presentation included typical hair and facial features, as well as slight skeletal abnormalities.Discussion. There is a wide variability in clinical expression of TRPS I. Manifestations of the disease can be subtle, yet skeletal anomalies imply that TRPS I is more than an esthetic problem. Clinical and genetic diagnosis allows adequate followup and timely therapeutic procedures. When a single mutation was sufficient for the onset of the disease, our patient presented two different ones.
机译：背景。 Trichorhinophalangeal syndrome（TRPS）是常染色体显性遗传性骨骼发育异常，由涉及TRPS1基因的缺陷引起。已经描述了三种类型（TRPS I，II和III），表现出常见的三联症，头发，颅面和骨骼异常。 TRPS II包括智力低下和多个外生糖的其他特征。我们描述了一个儿童偶发性TRPS I型病例，该儿童在TRPS1基因中有两个新的无意义的致病突变，均为杂合性-c.1198C> T（p。Gln400X）和c.2086C> T（p.Arg696X）。在她的父母中没有发现这些突变。临床表现包括典型的头发和面部特征以及轻微的骨骼异常。 TRPS I的临床表达存在很大差异。该疾病的表现可能很细微，但骨骼异常提示TRPS I不仅仅是一个美学问题。临床和遗传学诊断可提供足够的随访和及时的治疗程序。当单个突变足以使疾病发作时，我们的患者就提出了两种不同的突变。

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