A genetic heterogeneity of renpenning syndrome mapped to chromosome Xq21-Xqter

Renpenning syndrome is an X-linked mental retardation associated with short stature, moderate microcephaly, unremarkable facies, and no other neurological abnormality. Renpenning first reported this disorder in a Mennonite family, and using this family, Renpenning Syndrome (RENS) has been mapped to Xp11.2-p11.4. Xu Cs found a Chinese family with an X-linked hereditary disease, and the clinical phenotype is similar to RENS. Recently, we performed the linkage analysis, and the result has shown the genetic heterogeneity of Renpenning Syndrome: a suggestive novel locus mapped to Xq21-Xqter in this Chinese family.