Analysis of TGFBI Gene Mutations in Three Chinese Families with Corneal Dystrophy

Journal of Ophthalmology
Feng ZhaoTao Guan

Abstract

To identify the types of TGFBI (transforming growth factor, beta-induced) gene mutations in three Chinese families with Reis-Bücklers corneal dystrophy (RBCD), lattice corneal dystrophy type I (LCDI), or Avellino corneal dystrophy (ACD) and to investigate the relationship between the phenotypes and genotypes of corneal dystrophy. Peripheral blood was collected from 24 patients and 76 phenotypically normal members in three Chinese families as well as from 100 healthy controls. Genomic DNA was extracted. All 17 exons of the TGFBI gene, and the exon-intron junctions were examined by polymerase chain reaction (PCR) and direct DNA sequencing to identify and analyse gene mutations. In addition, all members of the three families were subjected to detailed clinical examinations. The heterozygous c.371G > T (p.R124L) mutation was detected in exon 4 of the TGFBI gene in nine patients from the family with RBCD. In contrast, this mutation was not found in the phenotypically normal members of the family. The heterozygous c.370C > T (p.R124C) mutation was found in exon 4 of the TGFBI gene in 11 patients from the family with LCDI. This mutation was not found in the phenotypically normal members of the family. The heterozygous c.371G > A (p.R1...Continue Reading

References

Apr 10, 1999·Genes & Development·M KretzschmarJ Massagué
May 10, 2006·Human Mutation·Chitra Kannabiran, Gordon K Klintworth
Sep 9, 2011·Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (Optometrists)·Qingfeng LiangXiuying Jin
Oct 7, 2014·The Ocular Surface·R LakshminarayananJodhbir S Mehta
Jan 8, 2015·Cornea·Jayne S WeissWalter Lisch
Aug 28, 2015·Progress in Molecular Biology and Translational Science·Daniel Schorderet
Nov 28, 2015·Progress in Retinal and Eye Research·Kyung Eun HanEung Kweon Kim
Jun 28, 2016·Genetic Testing and Molecular Biomarkers·Jianqiu CaiQianyan Kang
Jul 2, 2016·International Journal of Ophthalmology·Ze-Nan LinHong-Ping Cui

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Citations

Jan 31, 2021·International Journal of Molecular Sciences·Sang Beom HanJodhbir S Mehta

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Methods Mentioned

BETA
electrophoresis
PCR
exon sequencing

Software Mentioned

BLAST
MutationTaster
SIFT
PloyPhen

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