A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation.

Background: Congenital hyperinsulinism is a genetically heterogeneous disorder, but mutations in the components of the ATP-sensitive potassium channel K(ATP) account for more than a third of all isolated congenital hyperinsulinism cases. The association between congenital hyperinsulinism and rhabdomyolysis has not been reported.

Objective: To describe significant skeletal muscle manifestations in a family with a novel mutation in KCNJ11 (encoding the Kir6.

The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.

One of us recently described an apparently novel ocular syndrome characterized by microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) in a number of Saudi families. Consistent with the presumed pseudodominant inheritance in one of the original families, we show that MMCAT maps to a single autozygous locus on chr16q23.1 in which exome sequencing revealed a homozygous missense change in ADAMTS18.