关键词: 　毛发鼻指（趾）骨综合征；　TRPS1基因；　基因突变

Abstract: 　Objective　To explore the genetic etiology of tricho-rhino-phalanseal syndrome (TRPS). Methods　The clinical and genetic testing data from a child were retrospectively analyzed. Results　The 4 years and 9 months old boy presented with short stature and difficult to feed，He has suffered from hand-foot-mouth disease（HFMD） many times and has sparse eyebrows and hair and pear-shaped nose. X-ray examination showed that his phalanx bones were tapered, and some bones were merged advance. The GH peak value of clonidine excitation test is 28.17 ng/mL，The genomic DNA of the child and his parents were extracted，The sequencing method was constructed by Agilent SureSelect method, and high-throughput sequencing was performed on the Illumina platform and verified by Sanger sequencing. The child's TRPS1 gene (NM_014112.4) was found to have "nonsense mutation c.1338C>A, P.Tyr446X (heterozygous)" as a new mutation, which has not been reported at home and abroad. It is determined as a pathogenic mutation according to the interpretation criteria and guidelines of ACMG sequence variation. Conclusion　Short stature is a common feature of TRPS, This mutation site of the TRPS1 gene in this case is the first report.

Key words: tricho-rhino-phalangeal syndrome;　TRPS1 gene;　gene mutation