A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.897
Abstract: Next‐generation sequencing has been invaluable to delineate the genetic etiology of neurodevelopmental disorders (NDDs) in recent years. BCL11B, encoding Cys2His2 zinc finger transcription factor, is essential for the development of immune and neural systems. read more here.
Keywords: frameshift mutation; heterozygous frameshift; identified bcl11b; mutation identified ... See more keywords
Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing.
Sign Up to like & getrecommendations! Published in 2017 at "Genetic Testing and Molecular Biomarkers"
DOI: 10.1089/gtmb.2016.0421
Abstract: Objectives: Waardenburg syndrome (WS) is a rare autosomal dominant disorder associated with pigmentation abnormalities and sensorineural hearing loss. In this study, we investigated the genetic cau... read more here.
Keywords: heterozygous deletion; deletion sox10; waardenburg syndrome; identification novel ... See more keywords
Whole‐Exome Sequencing Revealing De Novo Heterozygous Variant OF KCNT1 in a Twin Discordant for Benign Epilepsy with Centrotemporal Spikes
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Paediatrics and Child Health"
DOI: 10.1111/jpc.13939
Abstract: 1 Broyles LN, Van Beneden C, Beall B et al. Population-based study of invasive disease due to beta-hemolytic streptococci of groups other than A and B. Clin. Infect. Dis. 2009; 48: 706–12. 2 MacMahon HE,… read more here.
Keywords: exome sequencing; revealing novo; sequencing revealing; heterozygous variant ... See more keywords
A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of neuromuscular diseases"
DOI: 10.3233/jnd-190425
Abstract: BACKGROUND The phenotypic spectrum of the skeletal muscle voltage-gated sodium channel gene (SCN4A) mutations has been expanding dramatically with advancements in genetic testing. Previously only known to cause autosomal dominant myotonia or periodic paralysis, now… read more here.
Keywords: congenital myopathy; myotonia; novel novo; novo heterozygous ... See more keywords
Identification of a De Novo Heterozygous Missense ACTB Variant in Baraitser–Winter Cerebrofrontofacial Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.828120
Abstract: Baraitser–Winter cerebrofrontofacial syndrome (BWCFF, OMIM: 243310) is a rare autosomal-dominant developmental disorder associated with variants in the genes ACTB or ACTG1. It is characterized by brain malformations, a distinctive facial appearance, ocular coloboma, and intellectual… read more here.
Keywords: actb; winter cerebrofrontofacial; novo heterozygous; variant ... See more keywords