Corneal dystrophies in Japan |
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Authors: | Fujiki K Nakayasu K Kanai A |
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Institution: | (1) Department of Ophthalmology, Juntendo University School of Medicine, 3-1-3 Hongo, Bunkyo-ku, Tokyo 113-8431, Japan Tel. +81-3-5802-1092; Fax +81-3-3817-0260 e-mail: fujiki@med.juntendo.ac.jp, JP |
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Abstract: | Recent advances in molecular genetics have increased our understanding of the role of genes. Four autosomal dominant corneal
dystrophies (CDs); granular CD (GCD), Avellino CD (ACD), lattice CD (LCD), and Reis-Bücklers CD (RBCD) were mapped to the
long arm of chromosome 5 (5q31). These four diseases were shown, in a Caucasian series, to result from different missense
mutations in the TGFBI (BIGH3, keratoepithelin) gene. The same mutations were also detected in Japanese patients, from a different ethnic background. Gelatinous
drop-like corneal dystrophy (GDLD), on the other hand, which was found in Japanese patients in 1914, is a rare autosomal recessive
disorder characterized by corneal amyloidosis. Parents of the patients had a markedly higher frequency of consanguineous marriages
than the general population. The gene responsible for GDLD, the membrane component, chromosome 1, surface marker 1 (M1S1) gene was mapped to the short arm of chromosome 1(1p). Four deleterious mutations in this gene were detected in Japanese
patients. We review here additional studies on mutations of the TGFBI and M1S1 genes found in Japanese patients. In the TGFBI gene, nine different mutations were detected in Japanese patients with GCD, ACD, LCD, or RBCD. The codons R124 and R555 of
the TGFBI gene were hotspots in Japanese patients, of whom many were ACD patients with the R124H mutation. New mutations responsible
for LCD were detected in the TGFBI gene of patients with LCD, in addition to the P501T mutation in LCD type IIIA found earlier. These studies showed a clear
genotype/phenotype correlation associated with the TGFBI gene. In the M1S1 gene, the Q118X mutation was the most common alteration, and a founder mutation in Japanese GDLD patients, as previously
reported. Ninety-two percent of the mutated alleles were the Q118X.
Received: March 1, 2001 / Accepted: April 21, 2001 |
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Keywords: | Hereditary corneal dystrophy TGFBI (BIGH3) gene M1S1 gene Mutation Founder mutation Avellino corneal dystrophy Gelatinous drop-like corneal dystrophy |
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