Elsevier
Gene
,  volume 927 ,  pages 148726

A novel base substitution mutation of the CRYBA2 gene is associated with autosomal dominant congenital cataract

Yuming Liu 1
, 
Zi Ye 2
, 
Hanyang Yu 3
, 
Yan Zhang 3
, 
Zhaohui Li 2
1
 
Chinese People's Liberation Army (PLA) Medical School, Beijing 100853, China | 
2
 
3
 
Publication type: Journal Article
Publication date: 2024-11-01
Elsevier
scimago Q2
wos Q3
SJR: 0.682
CiteScore: 5.1
Impact factor: 2.4
ISSN: 03781119, 18790038
Abstract
Congenital cataract is one of the leading causes of vision loss in children, and a large proportion of cases are related to genetics. In a Chinese family, we reported a new missense mutation in CRYBA2 (c.223T>C: p.Tyr75His), which can cause autosomal dominant congenital bilateral cataract. We collected blood samples from family members (mother and two sons) and extracted DNA. Through whole-exome sequencing, we discovered a novel unreported mutation. According to relevant ACMG guidelines, this mutation was determined to be a variant of unknown clinical significance. This article further expands the site information on the CRYBA2 mutations.
Found 
Found 

Top-30

Journals

1
Veterinary Sciences
Veterinary Sciences, 1, 100%
Veterinary Sciences
1 publication, 100%
1

Publishers

1
MDPI
MDPI, 1, 100%
MDPI
1 publication, 100%
1
  • We do not take into account publications without a DOI.
  • Statistics recalculated weekly.

Are you a researcher?

Create a profile to get free access to personal recommendations for colleagues and new articles.
Metrics
1
Share
Cite this
GOST |
Cite this
GOST Copy
Liu Y. et al. A novel base substitution mutation of the CRYBA2 gene is associated with autosomal dominant congenital cataract // Gene. 2024. Vol. 927. p. 148726.
GOST all authors (up to 50) Copy
Liu Y., Ye Z., Yu H., Zhang Y., Li Z. A novel base substitution mutation of the CRYBA2 gene is associated with autosomal dominant congenital cataract // Gene. 2024. Vol. 927. p. 148726.
RIS |
Cite this
RIS Copy
TY - JOUR
DO - 10.1016/j.gene.2024.148726
UR - https://linkinghub.elsevier.com/retrieve/pii/S0378111924006073
TI - A novel base substitution mutation of the CRYBA2 gene is associated with autosomal dominant congenital cataract
T2 - Gene
AU - Liu, Yuming
AU - Ye, Zi
AU - Yu, Hanyang
AU - Zhang, Yan
AU - Li, Zhaohui
PY - 2024
DA - 2024/11/01
PB - Elsevier
SP - 148726
VL - 927
PMID - 38909969
SN - 0378-1119
SN - 1879-0038
ER -
BibTex
Cite this
BibTex (up to 50 authors) Copy
@article{2024_Liu,
author = {Yuming Liu and Zi Ye and Hanyang Yu and Yan Zhang and Zhaohui Li},
title = {A novel base substitution mutation of the CRYBA2 gene is associated with autosomal dominant congenital cataract},
journal = {Gene},
year = {2024},
volume = {927},
publisher = {Elsevier},
month = {nov},
url = {https://linkinghub.elsevier.com/retrieve/pii/S0378111924006073},
pages = {148726},
doi = {10.1016/j.gene.2024.148726}
}