A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.
WDR81 mutation
microlissencephaly
pontocerebellar hypoplasia
Journal
Journal of pediatric genetics
ISSN: 2146-4596
Titre abrégé: J Pediatr Genet
Pays: Germany
ID NLM: 101589859
Informations de publication
Date de publication:
Jun 2021
Jun 2021
Historique:
received:
18
02
2020
accepted:
22
04
2020
entrez:
17
5
2021
pubmed:
18
5
2021
medline:
18
5
2021
Statut:
ppublish
Résumé
Microlissencephaly is a brain malformation characterized by microcephaly and extremely simplified gyral pattern. It may be associated with corpus callosum agenesis and pontocerebellar hypoplasia. In this case report, we described two siblings, a boy and a girl, with this complex brain malformation and lack of any development. In the girl, exome sequencing of a gene set representing 4,813 genes revealed a homozygous AG deletion in exon 7 of the WDR81 gene, leading to a frameshift (c.4668_4669delAG, p.Gly1557AspfsTer16). The parents were heterozygous for this mutation. The boy died without proper genetic testing. Our findings expand the phenotypic and genotypic spectrum of WDR81 gene mutations.
Identifiants
pubmed: 33996189
doi: 10.1055/s-0040-1712916
pii: 2000023
pmc: PMC8110363
doi:
Types de publication
Case Reports
Langues
eng
Pagination
159-163Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
Conflict of Interest None declared.
Références
Am J Hum Genet. 2016 Aug 4;99(2):511-20
pubmed: 27453579
J Neurosci. 2013 Apr 17;33(16):6834-44
pubmed: 23595742
Brain. 2017 Oct 1;140(10):2597-2609
pubmed: 28969387
Genome Res. 2011 Dec;21(12):1995-2003
pubmed: 21885617
Eur J Med Genet. 2015 Aug;58(8):416-8
pubmed: 26188271
Neuropediatrics. 1998 Jun;29(3):113-9
pubmed: 9706619
Trends Biochem Sci. 2010 Oct;35(10):565-74
pubmed: 20451393
Ann Neurol. 2017 Jun;81(6):890-897
pubmed: 28556411
Genet Med. 2019 Mar;21(3):736-742
pubmed: 30237576
Acta Neuropathol Commun. 2014 Jul 25;2:69
pubmed: 25059107
Am J Med Genet A. 2016 Feb;170A(2):540-543
pubmed: 26437881
Ann Neurol. 2017 Oct;82(4):650-651
pubmed: 28972664
Traffic. 2016 Aug;17(8):940-58
pubmed: 27126989
Cell Rep. 2015 Jan 13;10(2):148-61
pubmed: 25558065
Mol Neurobiol. 2018 Jul;55(7):5409-5424
pubmed: 28940170
Am J Hum Genet. 2011 May 13;88(5):536-47
pubmed: 21529751
Nat Methods. 2014 Apr;11(4):361-2
pubmed: 24681721
J Cell Biol. 2017 May 1;216(5):1301-1320
pubmed: 28404643
J Cell Biol. 2016 Jan 18;212(2):181-98
pubmed: 26783301
Neuron. 2014 Dec 17;84(6):1240-57
pubmed: 25521379