A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome

Ophthalmic Genet. 2020 Oct;41(5):501-504. doi: 10.1080/13816810.2020.1768554. Epub 2020 Aug 24.

Authors

Chuanzhen Zheng¹, Xinjun Ren¹, Dongjun Xing¹, Shaochong Bu¹, Dejia Wen¹, Ye He¹, Jinping Zhang¹, Lijie Dong¹, Xiaorong Li¹

Affiliation

¹ Tianjin Key Laboratory of Retinal Functions and Diseases, Tianjin International Joint Research and Development Centre of Ophthalmology and Vision Science, Eye Institute and School of Optometry, Tianjin Medical University Eye Hospital , Tianjin, China.

PMID: 32835555
DOI: 10.1080/13816810.2020.1768554

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Cadherin Related Proteins
Cadherins / genetics*
Cadherins / metabolism
Child, Preschool
Heterozygote*
Humans
Male
Middle Aged
Mutation, Missense*
Pedigree
Prognosis
Usher Syndromes / genetics
Usher Syndromes / pathology*
Young Adult

Substances

CDH23 protein, human
CDHR15, human
Cadherin Related Proteins
Cadherins