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Novel mutation of TRPS1 in a patient with tricho‐rhino‐phalangeal syndrome

Tricho-rhino-phalangeal syndrome (TRPS) is an autosomal dominant genetic disease characterized by craniofacial and skeletal abnormalities. It is divided into three types, type Ⅰ (MIM 190350) and type Ⅲ (MIM 190351) are caused by TRPS1 gene mutations on chromosome 8, and type Ⅱ (MIM 150230) is caused by loss of functional copies of TRPS1 and EXT1 gene[1,2] . Here, we report a case of TRPS type Ⅲ who had a new pathogenic missense mutation site in TRPS1 gene.