Mutation hot spots in 5q31-linked corneal dystrophies

E. Korvatska, F. L. Munier, A. Djemaï, M. X. Wang, B. Frueh, A. G Y Chiou, S. Uffer, E. Ballestrazzi, R. E. Braunstein, Richard Forster, William W Culbertson, H. Boman, L. Zografos, D. F. Schorderet

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Abstract

Mutations in the BIGH3 gene on chromosome 5q31 cause four distinct autosomal dominant diseases of the human cornea: granular (Groenouw type I), Reis-Bucklers, lattice type I, and Avellino corneal dystrophies. All four diseases are characterized by both progressive accumulation of corneal deposits and eventual loss of vision. We have identified a specific recurrent missense mutation for each type of dystrophy, in 10 independently ascertained families. Genotype analysis with microsatellite markers surrounding the BIGH3 locus was performed in these 10 families and in 5 families reported previously. The affected haplotype could be determined in 10 of the 15 families and was different in each family. These data indicate that R555W, R124C, and R124H mutations occurred independently in several ethnic groups and that these mutations do not reflect a putative founder effect. Furthermore, this study confirms the specific importance of the R124 and R555 amino acids in the pathogenesis of autosomal dominant corneal dystrophies linked to 5q.

Original languageEnglish
Pages (from-to)320-324
Number of pages5
JournalAmerican Journal of Human Genetics
Volume62
Issue number2
DOIs
StatePublished - Feb 1 1998

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Mutation
1,1,1,2-tetrafluoro-2-chloroethane
Founder Effect
Missense Mutation
Ethnic Groups
Microsatellite Repeats
Cornea
Haplotypes
Chromosomes
Genotype
Amino Acids
Genes

ASJC Scopus subject areas

  • Genetics

Cite this

Korvatska, E., Munier, F. L., Djemaï, A., Wang, M. X., Frueh, B., Chiou, A. G. Y., ... Schorderet, D. F. (1998). Mutation hot spots in 5q31-linked corneal dystrophies. American Journal of Human Genetics, 62(2), 320-324. https://doi.org/10.1086/301720

Mutation hot spots in 5q31-linked corneal dystrophies. / Korvatska, E.; Munier, F. L.; Djemaï, A.; Wang, M. X.; Frueh, B.; Chiou, A. G Y; Uffer, S.; Ballestrazzi, E.; Braunstein, R. E.; Forster, Richard; Culbertson, William W; Boman, H.; Zografos, L.; Schorderet, D. F.

In: American Journal of Human Genetics, Vol. 62, No. 2, 01.02.1998, p. 320-324.

Research output: Contribution to journalArticle

Korvatska, E, Munier, FL, Djemaï, A, Wang, MX, Frueh, B, Chiou, AGY, Uffer, S, Ballestrazzi, E, Braunstein, RE, Forster, R, Culbertson, WW, Boman, H, Zografos, L & Schorderet, DF 1998, 'Mutation hot spots in 5q31-linked corneal dystrophies', American Journal of Human Genetics, vol. 62, no. 2, pp. 320-324. https://doi.org/10.1086/301720
Korvatska E, Munier FL, Djemaï A, Wang MX, Frueh B, Chiou AGY et al. Mutation hot spots in 5q31-linked corneal dystrophies. American Journal of Human Genetics. 1998 Feb 1;62(2):320-324. https://doi.org/10.1086/301720
Korvatska, E. ; Munier, F. L. ; Djemaï, A. ; Wang, M. X. ; Frueh, B. ; Chiou, A. G Y ; Uffer, S. ; Ballestrazzi, E. ; Braunstein, R. E. ; Forster, Richard ; Culbertson, William W ; Boman, H. ; Zografos, L. ; Schorderet, D. F. / Mutation hot spots in 5q31-linked corneal dystrophies. In: American Journal of Human Genetics. 1998 ; Vol. 62, No. 2. pp. 320-324.
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