Biallelic Variants in
EPHA2
Eph receptor
cataract
exome sequencing
hereditary congenital cataract
inbred population
tyrosine kinase receptor
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:
30 Sep 2021
30 Sep 2021
Historique:
received:
13
09
2021
revised:
27
09
2021
accepted:
29
09
2021
entrez:
13
10
2021
pubmed:
14
10
2021
medline:
9
11
2021
Statut:
epublish
Résumé
Hereditary congenital cataract (HCC) is clinically and genetically heterogeneous. We investigated HCC that segregates in three inbred families (LUCC03, LUCC16, and LUCC24). Ophthalmological examinations revealed cataracts with variability related to the age of onset segregating in a recessive manner in these families. Exome sequencing of probands identified a novel homozygous c.2710delG;p.(Val904Cysfs*36)
Identifiants
pubmed: 34638995
pii: ijms221910655
doi: 10.3390/ijms221910655
pmc: PMC8508826
pii:
doi:
Substances chimiques
EPHA2 protein, human
0
Receptor, EphA2
EC 2.7.10.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIDCD NIH HHS
ID : R01 DC016295
Pays : United States
Organisme : NIDCD NIH HHS
ID : R01DC016295
Pays : United States
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