A Novel
EBF3
ataxia
c.589A > G
delayed development syndrome
hypotonia
pathogenic mutation
trio whole-exome sequencing
Journal
Frontiers in genetics
ISSN: 1664-8021
Titre abrégé: Front Genet
Pays: Switzerland
ID NLM: 101560621
Informations de publication
Date de publication:
2021
2021
Historique:
received:
06
03
2021
accepted:
05
07
2021
entrez:
9
8
2021
pubmed:
10
8
2021
medline:
10
8
2021
Statut:
epublish
Résumé
Global developmental delay has markedly high phenotypic and genetic heterogeneity, and is a great challenge for clinical diagnosis. Hypotonia, ataxia, and delayed development syndrome (HADDS), first reported in 2017, is one type of global development delay. The aim of the present study was to investigate the genetic etiology of a Chinese boy with global developmental delay. We combined clinical and imaging phenotyping with trio whole-exome sequencing and Sanger sequencing to the patient and his clinically unaffected parents. A luciferase reporter and immunofluorescence were performed to detect the effect of mutation on transcriptional activity and subcellular localization. The patient presented with several previously unreported symptoms in the patients with HADDS, including hemangiomas, mild hearing abnormalities and tracheomalacia. A novel To the best of our knowledge, this is the first report of
Identifiants
pubmed: 34367240
doi: 10.3389/fgene.2021.676832
pmc: PMC8339956
doi:
Types de publication
Journal Article
Langues
eng
Pagination
676832Informations de copyright
Copyright © 2021 Huang, Mei, Wang, Ye, Ma, Zhang, Cai, Li, Ge and Zhou.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Development. 2004 Mar;131(6):1377-88
pubmed: 14993187
Mol Cell Biol. 1992 Mar;12(3):1126-33
pubmed: 1545794
Am J Hum Genet. 2017 Jan 5;100(1):128-137
pubmed: 28017372
Eur J Immunol. 2011 Jun;41(6):1787-93
pubmed: 21469119
Neurology. 2003 Feb 11;60(3):367-80
pubmed: 12578916
Am J Hum Genet. 2017 Jan 5;100(1):138-150
pubmed: 28017370
Arch Dis Child. 2014 Apr;99(4):386-9
pubmed: 24344174
Am J Hum Genet. 2017 Jan 5;100(1):117-127
pubmed: 28017373
Nat Genet. 2002 Nov;32(3):453-8
pubmed: 12355068
Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):
pubmed: 29162653
J Biol Chem. 2010 Aug 20;285(34):25875-9
pubmed: 20592035
Proc Natl Acad Sci U S A. 2004 Oct 5;101(40):14509-14
pubmed: 15452350
J Child Neurol. 2000 Sep;15(9):620-2
pubmed: 11019793
Neurology. 2011 Oct 25;77(17):1629-35
pubmed: 21956720
Mol Cell Biol. 2002 Dec;22(24):8389-97
pubmed: 12446759
Nat Commun. 2014 May 02;5:3793
pubmed: 24786561