McKusick-Kaufman syndrome

A genetic disorder in which there is build-up of fluids (called hydrometrocolpos) in the vagina and the uterus as a result of a membrane across the vagina which holds back the cervical fluid secreted in response to the mother’s hormones during pregnancy. Boys with this disease have the opening for urine on the underside of the penis (hypospadias). Other features (in both girls and boys) include extra fingers and toes (polydactyly) and heart defects at birth (congenital heart disease).

The McKusick-Kaufman syndrome (MKKS) is (more common in) the Amish but also occurs in (all other populations) . About 1%-3% of Amish in Lancaster County, Pennsylvania carry one mutated copy of MKKS gene. They do not have the syndrome. To have the MKKS, a child has to inherit two copies of the gene, one from each parent.

The protein predicted by the sequence of the MKKS gene appears similar to the chaperonin family of proteins. The chaperonins protect cells from damage by reshaping abnormal proteins. Protein processing thus appears important during the fetal development of the limb, heart, and reproductive system.

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