Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland

Ning Pu Liu, Susan Dew-Knight, Melissa Rayner, Fridbert Jonasson, Tomoya O. Akama, Michiko N. Fukuda, Wenjun Bao, John Gilbert, Jeffery M Vance, Gordon K. Klintworth

Research output: Contribution to journalArticle

45 Citations (Scopus)

Abstract

Purpose: Macular corneal dystrophy (MCD) is subdivided into three immunophenotypes (MCD types I, IA and II). Recently, mutations in the carbohydrate sulfotransferase 6 gene (CHST6) were identified to cause MCD. The purpose of this study was to examine CHST6 for mutations in Icelandic patients with MCD type I. Methods: Genomic DNA was extracted from leukocytes in the peripheral blood and the coding region of CHST6 was examined for mutations by polymerase chain reaction (PCR) and direct sequencing. Results: Mutation analysis of the CHST6 coding region identified three different mutations in sixteen Icelandic patients with MCD type I. Eleven patients with MCD type I were homozygous for a C1075T mutation. One patient with MCD type I was found to be a compound heterozygous for C1075T and G1189C mutations. One family with MCD type I contained a 10 base pair insertion (ATGCTGTGCG) between nucleotides 707 and 708. In this family, two affected siblings had a homozygous insertion while both their affected mother and their affected maternal aunt had a heterozygous insertion and a heterozygous C1075T mutation. Conclusions: Three different nucleotide changes were identified in the coding region of CHST6 in sixteen Icelandic patients with MCD type I. All three of these alterations are predicted to affect the translated protein and each of them corresponded to a particular disease haplotype that we had previously reported in this population.

Original languageEnglish
Pages (from-to)261-264
Number of pages4
JournalMolecular Vision
Volume6
Issue number35
StatePublished - Dec 1 2000
Externally publishedYes

Fingerprint

Iceland
Mutation
Genes
Nucleotides
Mothers
Corneal type 1 Macular dystrophy
carbohydrate sulfotransferases
Base Pairing
Haplotypes
Siblings
Leukocytes
Polymerase Chain Reaction

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Liu, N. P., Dew-Knight, S., Rayner, M., Jonasson, F., Akama, T. O., Fukuda, M. N., ... Klintworth, G. K. (2000). Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. Molecular Vision, 6(35), 261-264.

Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. / Liu, Ning Pu; Dew-Knight, Susan; Rayner, Melissa; Jonasson, Fridbert; Akama, Tomoya O.; Fukuda, Michiko N.; Bao, Wenjun; Gilbert, John; Vance, Jeffery M; Klintworth, Gordon K.

In: Molecular Vision, Vol. 6, No. 35, 01.12.2000, p. 261-264.

Research output: Contribution to journalArticle

Liu, NP, Dew-Knight, S, Rayner, M, Jonasson, F, Akama, TO, Fukuda, MN, Bao, W, Gilbert, J, Vance, JM & Klintworth, GK 2000, 'Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland', Molecular Vision, vol. 6, no. 35, pp. 261-264.
Liu NP, Dew-Knight S, Rayner M, Jonasson F, Akama TO, Fukuda MN et al. Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. Molecular Vision. 2000 Dec 1;6(35):261-264.
Liu, Ning Pu ; Dew-Knight, Susan ; Rayner, Melissa ; Jonasson, Fridbert ; Akama, Tomoya O. ; Fukuda, Michiko N. ; Bao, Wenjun ; Gilbert, John ; Vance, Jeffery M ; Klintworth, Gordon K. / Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland. In: Molecular Vision. 2000 ; Vol. 6, No. 35. pp. 261-264.
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AU - Fukuda, Michiko N.

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