Dominant mutations in ITPR3 cause Charcot‐Marie‐Tooth disease

Genetic Mutations that Cause Coronary Artery Disease

Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.

Autosomal dominant polycystic liver disease (ADPLD) is a distinct clinical and genetic entity that can occur independently from autosomal dominant polycystic kidney disease (ADPKD). We previously studied two large kindreds and reported localization of a gene for ADPLD to an approximately 8-Mb region, flanked by markers D19S586/D19S583 and D19S593/D19S579, on chromosome 19p13.2-13.1. Expansion o...

PRPF4 mutations cause autosomal dominant retinitis pigmentosa.

Retinitis pigmentosa (RP), a disease characterized by progressive loss of photoreceptors, exhibits significant genetic heterogeneity. Several genes associated with U4/U6-U5 triple small nuclear ribonucleoprotein (tri-snRNP) complex of the spliceosome have been implicated in autosomal dominant RP (adRP). HPrp4, encoded by PRPF4, regulates the stability of U4/U6 di-snRNP, which is essential for c...

SPP2 Mutations Cause Autosomal Dominant Retinitis Pigmentosa

Retinitis pigmentosa (RP) shows progressive loss of photoreceptors involved with heterogeneous genetic background. Here, by exome sequencing and linkage analysis on a Chinese family with autosomal dominant RP, we identified a putative pathogenic variant, p.Gly97Arg, in the gene SPP2, of which expression was detected in multiple tissues including retina. The p.Gly97Arg was absent in 800 ethnical...

Induction of dominant mutations that cause skeletal malformations in mice

A new approach for estimating genetic risk to humans from radiation is based upon an analysis of the frequency of induction of dominant mutations that cause skeletal abnormalities in mice. The main goal of this work is to improve estimates of the effect that an increase in the mutation frequency would have upon the incidence of serious genetic diseases in humans. The data obtained relate to dom...