Frameshift mutation of

Adult Alleles Animals Brain / metabolism DNA Mutational Analysis Disease Models, Animal Electroencephalography Frameshift Mutation Genetic Association Studies Genetic Predisposition to Disease Genotype Hearing Disorders / diagnosis Humans Immunohistochemistry Male Memory Disorders / diagnosis Mice Mice, Knockout Mitochondria / genetics Mitochondrial Precursor Protein Import Complex Proteins / genetics Pedigree Phenotype Superoxide Dismutase / metabolism
clinical genetics genetic screening/counselling neurology neuromuscular disease

Journal

Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R

Informations de publication

Date de publication:
09 2021
Historique:
received: 05 03 2020
revised: 12 06 2020
accepted: 05 07 2020
pubmed: 21 8 2020
medline: 23 2 2022
entrez: 22 8 2020
Statut: ppublish

Résumé

Deafness-dystonia-optic neuronopathy (DDON) syndrome is a progressive X-linked recessive disorder characterised by deafness, dystonia, ataxia and reduced visual acuity. The causative gene deafness/dystonia protein 1 ( We characterized a family with DDON syndrome, in which the affected members carried a novel hemizygous variation in the Our study suggests that frameshift mutation of the

Sections du résumé

BACKGROUND
Deafness-dystonia-optic neuronopathy (DDON) syndrome is a progressive X-linked recessive disorder characterised by deafness, dystonia, ataxia and reduced visual acuity. The causative gene deafness/dystonia protein 1 (
METHODS AND RESULTS
We characterized a family with DDON syndrome, in which the affected members carried a novel hemizygous variation in the
CONCLUSION
Our study suggests that frameshift mutation of the

Identifiants

DOI: 10.1136/jmedgenet-2020-106925 PMID: 32820032
pubmed: 32820032
pii: jmedgenet-2020-106925
doi: 10.1136/jmedgenet-2020-106925
doi:

Substances chimiques

Mitochondrial Precursor Protein Import Complex Proteins 0
TIMM8A protein, human 0
Superoxide Dismutase EC 1.15.1.1
superoxide dismutase 2 EC 1.15.1.1

Types de publication

Case Reports Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

619-627

Informations de copyright

© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.

Déclaration de conflit d'intérêts

Competing interests: None declared.

Auteurs

Pingping Song (P)

Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
Neurology and Stroke Center, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong, China.

Yuqing Guan (Y)

Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.

Xia Chen (X)

Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.

Chaochen Wu (C)

Physiology, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.

An Qiao (A)

Physiology, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.

Haishan Jiang (H)

Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.

Qi Li (Q)

Otolaryngology-Head and Neck Surgery, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.

Yingwei Huang (Y)

Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.

Wei Huang (W)

Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
Neurology, Shunde Hospital, Southern Medical University, Foshan, Guangdong, China.

Miaojing Xu (M)

Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.
Neurology, the First Affiliated Hospital of Hainan Medical University, Haikou, China.

Ouattara Niemtiah (O)

Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.

Chao Yuan (C)

Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.

Wei Li (W)

Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.

Liang Zhou (L)

Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.

Zhongju Xiao (Z)

Physiology, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong, China.

Suyue Pan (S)

Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China.

Yafang Hu (Y)

Neurology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong, China yafanghu@smu.edu.cn.
ORCID: 0000-0001-6162-400X

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Classifications MeSH

questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Frameshift mutation of
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › Frameshift mutation of
questionsmedicales.fr › Eucaryotes › Animaux › Frameshift mutation of
questionsmedicales.fr › Système nerveux › Système nerveux central › Encéphale › Frameshift mutation of
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Analyse de mutations d'ADN › Frameshift mutation of
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles biologiques › Modèles animaux de maladie humaine › Frameshift mutation of
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Électrodiagnostic › Électroencéphalographie › Frameshift mutation of
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation avec décalage du cadre de lecture › Frameshift mutation of
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › Frameshift mutation of
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Frameshift mutation of
questionsmedicales.fr › Phénomènes génétiques › Génotype › Frameshift mutation of
questionsmedicales.fr › États, signes et symptômes pathologiques › Signes et symptômes › Manifestations neurologiques › Troubles sensitifs › Troubles de l'audition › Frameshift mutation of
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Frameshift mutation of
questionsmedicales.fr › Disciplines des sciences naturelles › Chimie › Biochimie › Immunohistochimie › Frameshift mutation of
questionsmedicales.fr › Comportement et mécanismes comportementaux › Manifestations neurocomportementales › Troubles de la mémoire › Frameshift mutation of
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Frameshift mutation of
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Rodentia › Muridae › Murinae › Souris › Souris transgéniques › Souris knockout › Frameshift mutation of
questionsmedicales.fr › Cellules › Structures cellulaires › Fractions subcellulaires › Mitochondries › Frameshift mutation of
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines mitochondriales › Protéines de transport de la membrane mitochondriale › Protéines du complexe d'import des protéines précurseurs mitochondriales › Frameshift mutation of
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Frameshift mutation of
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Frameshift mutation of
questionsmedicales.fr › Enzymes et coenzymes › Enzymes › Oxidoreductases › Superoxide dismutase › Frameshift mutation of