A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Developmental Neuroscience"
DOI: 10.1002/jdn.10170
Abstract: With the rapid development of genetic detection technology, especially next‐generation sequencing, identification of the aetiology of unexplained intellectual disabilities accompanied by seizures and other dysmorphic features has become possible. The purpose of our paper is… read more here.
Keywords: delay seizures; developmental delay; novel novo; severe global ... See more keywords
Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy
Sign Up to like & getrecommendations! Published in 2022 at "Neurological Sciences"
DOI: 10.1007/s10072-021-05824-9
Abstract: DYNC1H1 variants are associated with broad phenotypes including Charcot-Marie-Tooth disease, spinal muscular atrophy, and mental retardation. However, DYNC1H1 variants related intractable epilepsy have not yet been described in detail so far. Herein, we describe the… read more here.
Keywords: intractable epilepsy; novel novo; whole exome; novo variant ... See more keywords
A novel de novo NLRC4 mutation reinforces the likely pathogenicity of specific LRR domain mutation.
Sign Up to like & getrecommendations! Published in 2019 at "Clinical immunology"
DOI: 10.1016/j.clim.2019.108328
Abstract: Autoinflammatory disorders are characterized by dysregulated innate immune response, resulting in recurrent uncontrolled systemic inflammation and fever. Gain-of-function mutations in NLRC4 have been described to cause a range of autoinflammatory disorders. We report a twelve-year-old… read more here.
Keywords: likely pathogenicity; lrr domain; novel novo; mutation ... 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
Phenotypes of a female patient with novel de novo frameshift ARX variant identified by whole-exome sequencing: a case report
Sign Up to like & getrecommendations! Published in 2023 at "Annals of Medicine and Surgery"
DOI: 10.1097/ms9.0000000000000197
Abstract: Introduction and importance: Variants in the aristaless-related homeobox (ARX) gene cause a diverse spectrum of phenotypes of neurodevelopmental disorders (NDD) in male patients. This article describes the role of genetic testing using whole-exome sequencing (WES)… read more here.
Keywords: arx variant; whole exome; variant; arx gene ... See more keywords
Identification of a novel de novo ANK1 R1426* nonsense mutation in a Chinese family with hereditary spherocytosis by NGS
Sign Up to like & getrecommendations! Published in 2017 at "Oncotarget"
DOI: 10.18632/oncotarget.18243
Abstract: Hereditary spherocytosis (HS) is an inherited heterogeneous hemolytic anemia, characterized by the presence of spherical-shaped erythrocytes on the peripheral blood smear, and the clinical manifestation ranges from asymptomatic to severely anemic, and transfusion-dependent patients. Mutations… read more here.
Keywords: hereditary spherocytosis; nonsense mutation; novel novo; novo ank1 ... 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
Case Report: A Novel de novo Mutation in DNM1L Presenting With Developmental Delay, Ataxia, and Peripheral Neuropathy
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.604105
Abstract: DNM1L encodes dynamin-related protein 1 (Drp1), which is a member of the dynamin superfamily of GTPases and mediates mitochondrial and peroxisomal fission. In humans, several de novo heterozygous missense mutations in DNM1L have been reported,… read more here.
Keywords: developmental delay; novo mutation; peripheral neuropathy; dnm1l ... See more keywords
A Novel de Novo Variant in 5′ UTR of the NIPBL Associated with Cornelia de Lange Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13050740
Abstract: Background: Cornelia de Lange syndrome (CdLS) is a genetic syndrome characterized by intellectual disability, special facial features, growth retardation, feeding difficulties, and multiple organ system abnormalities. NIPBL variants occur in approximately 80% of CdLS cases.… read more here.
Keywords: lange syndrome; utr nipbl; variant; novel novo ... See more keywords
A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13101900
Abstract: Background: Inborn errors of immunity (IEIs) are comprised of heterogeneous groups of genetic disorders affecting immune function. In this report, a 17-month-old Malay patient suspected of having Hyper IgM syndrome, a type of IEIs, was… read more here.
Keywords: post translational; novel novo; ectodermal dysplasia; missense mutation ... See more keywords