A novel mutation in TPRS1 gene caused tricho-rhino-phalangeal syndrome in a Chinese patient with severe osteoporosis

摘要

＜正＞ Tricho-rhino-phalangeal syndrome （TRPS） was first reported in 1966. Although mutation of TRPS1 gene is considered tobe responsible for the syndromes in 2000, investigation of bone metabolism and changes of serum insulin-like growthfactor （IGF）-1 level in this kind of patients is rare. Here, we report a patient with TRPS Ⅰ （MIM 190350） presenting a novelmutation （1096insA） and abnormal changes of severe osteoporosis as well as low serum IGF-Ⅰ level.