A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases

Ophthalmic Genet. 2016;37(1):111-5. doi: 10.3109/13816810.2014.924016. Epub 2014 Jun 10.

Authors

Rui-Feng Du¹, Hao Huang², Liang-Liang Fan², Xiang-Ping Li³, Kun Xia^{2

4}, Rong Xiang^{2

3

4}

Affiliations

¹ a Department of Information Management , Hunan University of Finance and Economics , Changsha , China .
² b Department of Cell Biology , School of Life Sciences, Central South University , Changsha , China .
³ c Department of Cardiology , the Second Xiangya Hospital of Central South University , Changsha , China , and.
⁴ d State Key Laboratory of Medical Genetics , Central South University , Changsha , China.

PMID: 24914578
DOI: 10.3109/13816810.2014.924016

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Anterior Eye Segment / abnormalities*
Echocardiography
Exons / genetics
Eye Abnormalities / diagnosis
Eye Abnormalities / genetics*
Eye Diseases, Hereditary
Female
Forkhead Transcription Factors / genetics*
Genetic Predisposition to Disease*
Glaucoma / diagnosis
Glaucoma / genetics*
Gonioscopy
Heart Defects, Congenital / diagnosis
Heart Defects, Congenital / genetics*
Humans
Male
Mutation*
Pedigree
Sequence Analysis, DNA

Substances

FOXC1 protein, human
Forkhead Transcription Factors

Supplementary concepts

Axenfeld-Rieger syndrome