McKusick-Kaufman Syndrome
| Disorder | |
|---|---|
| OMIM #: | #236700 (Click to access OMIM database) |
| Disorder: | McKusick-Kaufman Syndrome |
| Also known as: | MKKS Hydrometrocolpos syndrome |
| Clinical | |
| Phenotype: | polydactyly, syndactyly, congenital heart defect, hydronephrosis, vaginal atresia, hydrometrocolpos, transverse vaginal membrane |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish | |
| Gene: | MKKS on chromosome 20p12, E3 region |
| Base Change: | C>T, at nucleotide 250 |
| Amino Acid Change: | his 84 --> tyr |
| 2 Amish | |
| Gene: | MSSK, E3 region |
| Base Change: | G>T, at nucleotide 724 |
| Amino Acid Change: | ala 242 --> ser |
| Last updated: | 2022-11-05 |
| References |
|---|
| McKusick VA. (1978) Medical Genetic Studies of the Amish: Selected Papers. Baltimore: Johns Hopkins Univ. Press pp. 318-323. |
| Stone D, Agarwala R, Schaffer A, Weber J, Vaske D, Oda T, Chandrasekharappa S, Francomano C, and Biesecker L. (1998) Genetic and physical mapping of the McKusick-Kaufman syndrome. Human Molecular Genetics 7(3): 475-481. PubMed ID: 9467007 |
| Stone D, Slavotinek A, Bouffard G, Banerjee-Basu S, Baxevanis A, Barr M, and Biesecker L. (2000) Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nature Genetics 25: 79-82. PubMed ID: 10802661 |
Back