Familial Xp11.22 microdeletion including SHROOM4 and CLCN5 is associated with intellectual disability short stature microcephaly and Dent disease: a case report

摘要

BackgroundTwo interstitial microdeletions Xp11.22 including the CLCN5 and SHROOM4 genes were recently reported in a male individual affected with Dent disease, short stature, psychomotor delay and minor facial anomalies. Dent disease, characterized by a specific renal phenotype, is caused by truncating mutations of CLCN5 in the majority of affected cases.