Geographical feature of lattice corneal dystrophy patients in Aichi Prefecture: an analysis of the TGFBI gene

Koji Hirano, Makoto Nakamura, Noriaki Yamamoto, Yoshihiro Hotta

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)

Abstract

PURPOSE: To investigate the genetics of patients with lattice corneal dystrophy (LCD) in Aichi Prefecture, the majority of whom originated from the same area of Hazu-gun. METHODS: We studied twenty patients who visited Nagoya University Hospital from April 1997 to March 2000 and were diagnosed as having LCD. A complete history including a detailed family history was obtained from each of the patients. DNA analysis was performed on each patient with an informed consent. RESULTS: Fourteen patients had an obvious family history, and 7 pedigrees were detected. Four of the 7 families were from Hazu-gun, and Arg 124 Cys mutation in the TGF-beta indused gene human 3(TGFBI) gene was detected in the families. A family from Nishikasugai-gun had a Leu 518 Pro mutation in the same gene. Six patients were considered sporadic without any family history. However, a heterozygous single base-pair transition (leucine to arginine) was detected in codon 527 of the TGFBI gene in 4 out of these 6 patients. CONCLUSION: Genetic analysis confirmed that LCD observed in patients from Hazu-gun is a type I LCD caused by an Arg 124 Cys mutation in the TGFBI gene. TGFBI gene mutations, other than the Arg 124 Cys, were detected in a family with LCD type I in Aichi Prefecture. Among the autosomal dominant inherited LCDs, there is at times a sporadic pattern because of its late-onset form.

Original languageEnglish
Pages (from-to)352-359
Number of pages8
JournalNippon Ganka Gakkai zasshi
Volume106
Issue number6
Publication statusPublished - 06-2002
Externally publishedYes

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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