Publications by authors named "Anne McRae"
Purpose: Missense de novo variants in CACNA1G, which encodes the Cav3.1 T-type calcium channel, have been associated with a severe, early-onset form of cerebellar disorder with neurodevelopmental deficits (SCA42ND). We explored a large series of pediatric cases carrying heterozygous variants in CACNA1G to further characterize genotype-phenotype correlations in SCA42ND.
View Article and Find Full Text PDFThe recurrent chromosome 16p11.2 BP4-BP5 microdeletion (MIM #611913) predisposes to a neurodevelopmental disorder with variable associated congenital anomalies and susceptibility to early-onset obesity. We identified 22 new individuals with proximal 16p11.
View Article and Find Full Text PDFArticle Synopsis
- * Researchers found 23 specific changes in a gene related to this complex that affect 38 people, leading to problems with brain cell growth and learning in animals.
- * By targeting certain stress response proteins, they discovered ways to help fix some of the immune issues caused by these disorders, leading to new ideas for treatments.
Article Synopsis
- Advances in molecular diagnostics have shown that certain genetic variants linked to neurodegenerative diseases can also cause severe neurodevelopmental disorders when inherited in a biallelic manner.* -
- The study focuses on TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5), revealing a range of clinical symptoms across a cohort of 57 individuals, including severe flexion contractures, developmental delays, and various motor issues.* -
- The research identified a phenotypic spectrum from mild symptoms to severe disabilities, with a notable survival rate of 71% and a median mortality age of 1.2 months, mainly due to complications like respiratory failure.*
Decreased or increased activity of potassium channels caused by loss-of-function and gain-of-function (GOF) variants in the corresponding genes, respectively, underlies a broad spectrum of human disorders affecting the central nervous system, heart, kidney, and other organs. While the association of epilepsy and intellectual disability (ID) with variants affecting function in genes encoding potassium channels is well known, GOF missense variants in K channel encoding genes in individuals with syndromic developmental disorders have only recently been recognized. These syndromic phenotypes include Zimmermann-Laband and Temple-Baraitser syndromes, caused by dominant variants in KCNH1, FHEIG syndrome due to dominant variants in KCNK4, and the clinical picture associated with dominant variants in KCNN3.
View Article and Find Full Text PDFWe describe six individuals with microdeletions and microduplications in the distal 22q11.2 region detected by microarray. Five of the abnormalities have breakpoints in the low-copy repeats (LCR) in this region and one patient has an atypical rearrangement.
View Article and Find Full Text PDF