Amish, Mennonite, and Hutterite
Genetic Disorder Database

McKusick-Kaufman Syndrome

Disorder
OMIM #: #236700  (Click to access OMIM database)
Disorder: McKusick-Kaufman Syndrome 
Also known as: MKKS
Hydrometrocolpos syndrome 
Clinical
Phenotype: polydactyly, congenital heart disease, vaginal atresia, hydrometrocolpos 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
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: 2007-07-25 

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 

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