Amish, Mennonite, and Hutterite
Genetic Disorder Database

Renpenning syndrome

Disorder
OMIM #: #309500  (Click to access OMIM database)
Disorder: Renpenning syndrome 
Also known as: X-linked mental retardation 
Clinical
Phenotype: males affected, microcephaly, short stature, small testes, cleft palate, congenital heart disease, developmental delay/mental retardation 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Unknown / Other Mennonite  
Gene: PQBP1, E5 region
Base Change: ins.C, at nucleotide 641
Amino Acid Change: Frame shift, stop codon at 226
Last updated: 2009-03-15 

References
Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Kooy R, Lubs H, Stevenson R, Ramser J, and Schwartz C. (2004) 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. Am. J. Hum. Genet. 74: 777-780.
PubMed ID: 15024694 
Renpenning HJ, Gerrard JW, Zaleski WA, Tabata T. (1962) Familial sex-linked mental retardation. Canad. Med. Assoc. J. 87:954-956.
PubMed ID: 13981686 

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