Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.
In Invest Ophthalmol Vis Sci, Jan 2016
Of the 71 probands, 44 (62.0%) had mutations in 11 genes responsible for ocular diseases accompanied by high myopia, including COL2A1, COL11A1, PRPH2, FBN1, GNAT1, OPA1, PAX2, GUCY2D, TSPAN12, CACNA1F, and RPGR.
Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.
Innsbruck, Austria. In Pflugers Arch, 2010
LTCC dysfunction can result from structural aberrations within their pore-forming alpha1 subunits causing hypokalemic periodic paralysis and malignant hyperthermia sensitivity (Cav1.1 alpha1), incomplete congenital stationary night blindness (CSNB2; Cav1.4 alpha1), and Timothy syndrome (Cav1.2
Unique disease heritage of the Dutch-German Mennonite population.
Calgary, Canada. In Am J Med Genet A, 2008
Such studies in the Dutch-German Mennonite population have already contributed to the identification of the causative genes in several conditions such as the incomplete form of X-linked congenital stationary night blindness (CSNB2; previously iCSNB) and hypophosphatasia (HOPS), as well as the discovery of founder mutations within established disease genes (MYBPC1, CYP17alpha).
The Ca(v)1.4 calcium channel: more than meets the eye.
Calgary, Canada. In Channels (austin), 2007
channels, and implicated these mutations in human disorders such as X-linked cone rod dystrophy (CORDX3) and incomplete X-linked congenital stationary night blindness type 2 (CSNB2).