ClinVar

In a patient (sdCHC-A) with stomatin-deficient cryohydrocytosis with neurologic defects (SDCHCN; 608885), originally reported by Fricke et al. (2004) as patient D-II-2, Flatt et al. (2011) identified a heterozygous G-to-A transition in the SLC2A1 gene, resulting in a gly286-to-asp (G286D) substitution at a highly conserved residue. The G286D mutation was not found in the unaffected parents, in 2 unaffected sibs, or in 35 controls, and Flatt et al. (2011) postulated that it was a de novo mutation. Patient red cells had decreased levels of stomatin (STOM; 133090) at the membrane, but normal levels of SLC2A1 and most other membrane proteins. Confocal imaging studies of developing erythrocytes suggested that the loss of stomatin occurred late during reticulocyte maturation and involved endocytosis. In vitro functional expression assays in Xenopus oocytes showed that the mutant protein did not transport glucose and leaked cations.