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, facial dysmorphism, difficultiy feeding, short stature, lean build, small testes, scoliosis, sparse hair, muscle atrophy, cleft palate, congenital heart defect, developmental delay, |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | X-linked recessive |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | PQBP1 |
| Base Change: | c.640dupC |
| Amino Acid Change: | p.Arg214Profs*13 |
| Last updated: | 2023-02-02 |
| References |
|---|
| Lenski C, Abidi F, Meindl A, Gibson A, Platzer M, Kooy R, Lubs H, Stevenson R, Ramser J, 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 Apr;74(4):777-80. PubMed ID: 15024694 |
| Renpenning HJ, Gerrard JW, Zaleski WA, Tabata T. (1962) Familial sex-linked mental retardation. Can Med Assoc J Nov 3;87(18):954-6. PubMed ID: 13981686 |
| Stevenson RE, Arena JF, Ouzts E, Gibson A, Shokeir MH, Vnencak-Jones C, Lubs HA, May M, Schwartz CE. (1998) Renpenning syndrome maps to Xp11. Am J Hum Genet May;62(5):1092-101. PubMed ID: 9545405 |
Back