TRPS1基因突变致毛发-鼻-指(趾)综合征Ⅲ型1例报告

A case report of tricho-rhino-phalangeal syndrome typeⅢcaused by TRPS1 gene mutation

本文报道1例在天津市妇女儿童保健中心儿童保健科确诊为毛发-鼻-指(趾)综合征Ⅲ型的病例。该病例中的患儿身材矮小,手指短,神经系统发育迟缓,基因检测显示TRPS1基因存在c.2975C>T(p.Pro992Leu)杂合变异,在使用重组人生长激素治疗32个月后身高增长明显,且未引起不良反应。

This paper reports a case of tricho-rhino-phalangeal syndrome typeⅢdiagnosed in Tianjin Women and Children Health Care Center.In this case,the child had short stature,short fingers,and delayed nervous system development.Genetic testing showed that the TRPS1 gene had a heterozygous mutation of c.2975C>T(p.Pro992Leu).After 32 months of treatment with Recombinant Human Growth Hormone,there was a significant increase in height without adverse reactions.