Disease-causing (pathogenic) variants (genetic changes) in the GPSM2gene are responsible for Chudley-McCullough syndrome. Two disease-causing variants, one on each copy of the GPSM2gene, are necessary for the condition to develop. This type of genetic inheritance is called autosomal recessive.
The GPSM2 protein, also called G protein signaling modulator 2, is important during cell divisions in the brain before birth. When the GPSM2 protein cannot be produced because of two altered GPSM2 genes, the hearing nerve and brain may not develop correctly.
GPSM2