scholarly journals Exome sequencing identifies a de novoSCN2Amutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

Epilepsia ◽  
2014 ◽  
Vol 55 (4) ◽  
pp. e25-e29 ◽  
Author(s):  
Anna-Lena Baasch ◽  
Irina Hüning ◽  
Christian Gilissen ◽  
Joerg Klepper ◽  
Joris A. Veltman ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Optic Atrophy ◽  
Muscular Hypotonia ◽  
Brain Abnormalities ◽  
Severe Intellectual Disability ◽  
Intractable Seizures

Diagnostic Exome Sequencing in Persons With Severe Intellectual Disability

2013 ◽  
Vol 68 (3) ◽  
pp. 191-193 ◽  
Author(s):  
Joep de Ligt ◽  
Marjolein H. Willemsen ◽  
Bregje W. M. van Bon ◽  
Tjitske Kleefstra ◽  
Helger G. Yntema ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Severe Intellectual Disability

RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

2021 ◽  
Author(s):  
J Fonseca ◽  
C Melo ◽  
C Ferreira ◽  
M Sampaio ◽  
R Sousa ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epileptic Encephalopathy ◽  
Btb Domain ◽  
Pathogenic Variants ◽  
Severe Intellectual Disability ◽  
Whole Exome

AbstractEarly infantile epileptic encephalopathy-64 (EIEE 64), also called RHOBTB2-related developmental and epileptic encephalopathy (DEE), is caused by heterozygous pathogenic variants (EIEE 64; MIM#618004) in the Rho-related BTB domain-containing protein 2 (RHOBTB2) gene. To date, only 13 cases with RHOBTB2-related DEE have been reported. We add to the literature the 14th case of EIEE 64, identified by whole exome sequencing, caused by a heterozygous pathogenic variant in RHOBTB2 (c.1531C > T), p.Arg511Trp. This additional case supports the main features of RHOBTB2-related DEE: infantile-onset seizures, severe intellectual disability, impaired motor functions, postnatal microcephaly, recurrent status epilepticus, and hemiparesis after seizures.

scholarly journals A Report on a Family with TMTC3-Related Syndrome and Review

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Sayeeda Hana ◽  
Deepak karthik ◽  
Jingxuan Shan ◽  
Stephany El Hayek ◽  
Lotfi Chouchane ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Neuronal Migration ◽  
Psychomotor Retardation ◽  
Muscular Hypotonia ◽  
Review Of The Literature ◽  
Recessive Mutations ◽  
Whole Exome ◽  
Development Delay ◽  
Cobblestone Lissencephaly

Recessive mutations in the TMTC3 gene have been reported in thirteen patients to date exhibiting development delay, intellectual disability (ID), seizures, and muscular hypotonia, accompanied occasionally by neuronal migration defects expressed as either cobblestone lissencephaly or periventricular hypertopia. Here, we report a new case of a TMTC3-related syndrome in a Lebanese family with two affected siblings showing severe psychomotor retardation, intellectual disability, microcephaly, absence of speech, muscular hypotonia, and seizures. Whole exome sequencing revealed a homozygous pathogenic variant c.211 C > T (p.R71C) in the TMTC3 gene in both siblings. A review of the literature on TMTC3-related syndrome and its causal mutations is provided.

scholarly journals Case report : a novel ASXL3 gene variant in a Sudanese boy

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ke Wu ◽  
Yan Cong
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
De Novo ◽  
Neurodevelopmental Disorder ◽  
Psychomotor Development ◽  
Gene Variant ◽  
Feeding Difficulties ◽  
Severe Intellectual Disability ◽  
Whole Exome

Abstract Background Bainbridge-Ropers syndrome (BRPS) [OMIM#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with generalized hypotonia, moderate to severe intellectual disability, poor or absent speech, feeding difficulties, growth failure, dysmorphic craniofacial features and minor skeletal features. The aim of this study was to investigate the genetic etiology of a Sudanese boy with severe developmental delay, intellectual disability, and craniofacial phenotype using trio-based whole-exome sequencing. To our knowledge, no patients with ASXL3 gene variant c.3043C>T have been reported detailedly in literature. Case presentation The patient (male, 3 years 6 months) was the first born of a healthy non-consanguineous couple originating from Sudan, treated for “psychomotor retardation” for more than 8 months in Yiwu. The patient exhibited severely delayed milestones in physiological and intellectual developmental stages, language impairment, poor eye-contact, lack of subtle motions of fingers, fear of claustrophobic space, hypotonia, clinodactyly, autistic features. Peripheral blood samples were collected from the patient and his parents. Trio-based whole-exome sequencing(Trio-WES) identified a de novo heterozygous ASXL3 gene variant c.3043C>T;p.Q1015X. Sanger sequencing verified variants of this family. Conclusion Trio-WES analysis identified a de novo nonsense variant (c.3043C>T) of ASXL3 gene in a Sudanese boy. To our knowledge, the patient with this variant has not been reported previously in literature. This study presents a new case for ASXL3 gene variants, which expanded the mutational and phenotypic spectrum.

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

2012 ◽  
Vol 367 (20) ◽  
pp. 1921-1929 ◽  
Author(s):  
Joep de Ligt ◽  
Marjolein H. Willemsen ◽  
Bregje W.M. van Bon ◽  
Tjitske Kleefstra ◽  
Helger G. Yntema ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Severe Intellectual Disability
Sign in / Sign up

Export Citation Format

Share Document