Renpenning syndrome represents a prototypic X-linked mental retardation condition with full expression of the phenotype in males and little or no expression in females. The predominant clinical findings are microcephaly, long narrow face, short stature with lean body build, and small testes. Mental retardation, usually of severe degree, occurs in 95% of cases. Less than 20% of cases have major malformations, the most common being cardiac defects and cleft palate. Subsequent to the description of mutations in the polyglutamine tract binding protein 1 (PQBP1) in Sutherland-Haan syndrome, Hamel cerebropalatocardiac syndrome, MRX55, and two small XLMR families, a single nucleotide insertion has been found in the original family with Renpenning syndrome and an AGAG deletion in a second family with the Renpenning syndrome. Mutations have also been found in Golabi-Ito-Hall syndrome, Porteous syndrome, and an additional small family. It is now demonstrated that five named XLMR syndromes (Sutherland-Haan, Hamel cerebropalatocardiac, Golabi-Ito-Hall, Porteous, and Renpenning), one nonsyndromic family (MRX55), and three small XLMR families have PQBP1 mutations and are thus allelic XLMR entities. In acknowledgement of the historical importance of the original report of Renpenning syndrome [1962], we propose that the entities with PQBP1 mutations be combined under the name of Renpenning syndrome.
2005 Wiley-Liss, Inc.