TRPS1 codon 952 constitutes a mutational hot spot in trichorhinophalangeal syndrome type I and could be associated with intellectual disability

摘要

Trichorhinophalangeal syndrome (TRPS) is an autosomal dominant malformation syndrome that is characterized by a triad of symptoms including sparse hair (tricho), pear-shaped nose (rhino), and brachydactyly (phalangeal). Three subtypes have been defined: TRPS type I (MM 190350) is the prototypical form of TRPS, caused by mutations in the TRPS1 gene located on chromosome 8q24.1. Type II (MIM 150230) represents a contiguous gene syndrome involving loss of functional copies of the TRPS1 and EXT1 genes and is characterized by multiple exostoses and intellectual disability (ID) in addition to the classical triad of symptoms. Type III (MIM 190351) is a variant of type I that includes severe short stature and brachydactyly in the absence of exostoses.