Novel Homozygous Missense Variant in
African American
GJA3
congenital cataract
cortical cataract
exome sequencing
nuclear cataract
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
27 Dec 2021
27 Dec 2021
Historique:
received:
15
11
2021
revised:
17
12
2021
accepted:
24
12
2021
entrez:
11
1
2022
pubmed:
12
1
2022
medline:
2
2
2022
Statut:
epublish
Résumé
Congenital cataracts (CC) are responsible for approximately one-tenth of childhood blindness cases globally. Here, we report an African American family with a recessively inherited form of CC. The proband demonstrated decreased visual acuity and bilateral cataracts, with nuclear and cortical cataracts in the right and left eye, respectively. Exome sequencing revealed a novel homozygous variant (c.563A > G; p.(Asn188Ser)) in
Identifiants
pubmed: 35008666
pii: ijms23010240
doi: 10.3390/ijms23010240
pmc: PMC8745576
pii:
doi:
Substances chimiques
Connexins
0
GJA3 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIDCD NIH HHS
ID : R00 DC009287
Pays : United States
Organisme : NIDCD NIH HHS
ID : R01 DC016295
Pays : United States
Références
Neuron Glia Biol. 2007 Aug;3(3):199-208
pubmed: 18634611
Mol Psychiatry. 2017 Nov;22(11):1604-1614
pubmed: 27457812
Mol Vis. 2004 Sep 14;10:668-71
pubmed: 15448617
Trends Cell Biol. 1998 Dec;8(12):477-83
pubmed: 9861669
Mol Vis. 2012;18:2114-8
pubmed: 22876138
Mol Vis. 2007 Sep 11;13:1657-65
pubmed: 17893674
Curr Opin Ophthalmol. 2017 Jan;28(1):98-103
pubmed: 27820750
Biochim Biophys Acta. 2004 Mar 23;1662(1-2):159-70
pubmed: 15033586
J Cataract Refract Surg. 1997;23 Suppl 1:601-4
pubmed: 9278811
Eye (Lond). 1993;7 ( Pt 1):184-8
pubmed: 8325414
Biochim Biophys Acta. 2016 Jan;1858(1):57-66
pubmed: 26449341
Br J Ophthalmol. 2002 Jul;86(7):782-6
pubmed: 12084750
Mol Vis. 2006 Jul 20;12:791-5
pubmed: 16885921
Antioxid Redox Signal. 2009 Feb;11(2):339-53
pubmed: 18831679
Genes (Basel). 2018 Feb 20;9(2):
pubmed: 29461512
Nature. 1994 Mar 24;368(6469):348-51
pubmed: 8127371
Proc Natl Acad Sci U S A. 1996 Feb 6;93(3):1287-91
pubmed: 8577756
Science. 2002 Jan 11;295(5553):319-20
pubmed: 11786642