Renpenning syndrome is a group of X-linked mental retardation syndromes, caused by mutations in human polyglutamine-binding protein 1 (PQBP1) gene. It is characterized by intellectual deficiency, microcephaly, short stature, and microrchidia. PQBP1 plays important roles in neurodevelopment and neuronal functions. It is thought to interact with RNA polymerase, transcription factors, and spliceosome proteins, and thus to act as a transcription and splicing regulator.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H01913 Renpenning syndrome
It has been 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. Since 2003, they are grouped under the common name of Renpenning syndrome.
Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Frank Kooy R, Lubs HA, Stevenson RE, Ramser J, Schwartz CE
Title
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly.
