Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family

Yanling Long; Sha Li; Limeng Dai; Xiao Liu; Xin Yin; Jiayun Ren; Hong Guo; Yong Liu; Xiaohong Meng; Shiying Li

doi:10.1080/13816810.2020.1755986

Nonsyndromic retinitis pigmentosa caused by two novel variants in the HGSNAT gene in a Chinese family

Ophthalmic Genet. 2020 Aug;41(4):390-393. doi: 10.1080/13816810.2020.1755986. Epub 2020 Apr 29.

Authors

Yanling Long^{1

2}, Sha Li^{1

2}, Limeng Dai³, Xiao Liu^{1

2}, Xin Yin^{1

2}, Jiayun Ren^{1

2}, Hong Guo³, Yong Liu^{1

2}, Xiaohong Meng^{1

2}, Shiying Li^{1

2}

Affiliations

¹ Southwest Hospital/Southwest Eye Hospital, Third Military Medical University (Army Medical University) , Chongqing, China.
² Key Lab of Visual Damage and Regeneration & Restoration of Chongqing , Chongqing, China.
³ Department of Medical Genetics, Third Military Medical University (Army Medical University) , Chongqing, China.

PMID: 32347150
DOI: 10.1080/13816810.2020.1755986

No abstract available

Publication types

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

MeSH terms

Acetyltransferases / genetics*
Adult
Asian People / genetics*
Eye Proteins / genetics*
Female
Humans
Male
Mutation*
Pedigree
Retinitis Pigmentosa / classification
Retinitis Pigmentosa / etiology
Retinitis Pigmentosa / pathology*

Substances

Eye Proteins
Acetyltransferases
HGSNAT protein, human