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[Analysis of TGFBI gene mutation in a pedigree affected with corneal dystrophy]

Anli Shu¹, Gen Li, Hai Luo

¹Hunan University of Medicine, Huaihua, Hunan 418000, China. clwan@sjtu.edu.cn.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics

|October 10, 2018

Abstract

Objective:

To detect potential mutation in a large Chinese pedigree affected with congenital corneal dystrophy.

Methods:

Two patients from the pedigree were subjected to whole exome sequencing to determine the candidate gene. Suspected mutation was verified in 13 additional members by directional Sanger sequencing. Ccorrelation between genotype and phenotype was explored.

Results:

A missense mutation, c.1877A>C (p.His626Pro), was detected in exon 14 of the TGFBI gene in 8 patients from the pedigree, but not in five unaffected members and 100 unrelated healthy controls. Respectively, the mutation was predicted as "affecting protein function", "probably damaging" and "disease causing" by SIFT, PolyPhen-2 and MutationTaster.

Conclusion:

The c.1877A>C mutation of the TGFBI gene probably underlies the disease in this pedigree.

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