title: Renpenning syndrome comes into focus.
abstract: 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.
authors.affiliation: Greenwood Genetic Center, Greenwood, South Carolina 29646, USA. res@ggc.org
authors.forename: Roger E
authors.initials: RE
authors.lastname: Stevenson
authors.forename: C W
authors.initials: CW
authors.lastname: Bennett
authors.forename: F
authors.initials: F
authors.lastname: Abidi
authors.forename: T
authors.initials: T
authors.lastname: Kleefstra
authors.forename: M
authors.initials: M
authors.lastname: Porteous
authors.forename: R J
authors.initials: RJ
authors.lastname: Simensen
authors.forename: H A
authors.initials: HA
authors.lastname: Lubs
authors.forename: B C J
authors.initials: BC
authors.lastname: Hamel
authors.forename: C E
authors.initials: CE
authors.lastname: Schwartz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D005145:Face / Q000002:abnormalities; D005260:Female; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D008297:Male; D038901:X-Linked Intellectual Disability / Q000473:pathology*; D008831:Microcephaly / Q000473:pathology*; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012737:Sex Factors; D013577:Syndrome; D013737:Testis / Q000002:abnormalities
chemical_list: D002352:Carrier Proteins; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C119246:PQBP1 protein, human