Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland.

2.50
Hdl Handle:
http://hdl.handle.net/2336/20272
Title:
Macular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland.
Authors:
Liu, Ning-Pu; Smith, Clayton F; Bowling, Brandy L; Jonasson, Fridbert; Klintworth, Gordon K
Citation:
Mol. Vis. 2006, 12:1148-52
Issue Date:
2-Oct-2006
Abstract:
PURPOSE: To identify CHST6 mutations in five additional Icelandic cases of macular corneal dystrophy (MCD) type I and in four families with MCD type II from Iceland. METHODS: Genomic DNA was extracted from blood leukocytes of patients with MCD, their healthy family members, and from control individuals. CHST6 mutations were determined by PCR-sequencing. Immunophenotypes of MCD were determined by measuring antigenic keratan sulfate (AgKS) levels in serum and by an immunohistochemical study on corneal tissue. RESULTS: Five additional cases of MCD type I and four families with MCD type II from Iceland were studied. A homozygous p.A128V mutation in the coding region of the CHST6 gene was identified in four of the five MCD type I cases. The other person with MCD type I was a compound heterozygote for p.A128V and a frameshift p.V6fs resulting from a 10-base pair insertion (c.15_16insATGCTGTGCG). Four of five individuals with MCD type II were compound heterozygotes for p.A128V and p.V329L, thus sharing the same p.A128V mutation as MCD type I. One patient with MCD type II was homozygous for p.V329L. The p.V329L mutation was only found in MCD type II patients. An analysis of the upstream region of CHST6 disclosed no upstream deletion or replacements in Icelandic patients with MCD type II. CONCLUSIONS: The findings fit the haplotype analysis that we reported previously in Icelandic MCD families and indicate that different mutations in CHST6 cause MCD type I and type II in Iceland.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://www.molvis.org/molvis/v12/a130

Full metadata record

DC FieldValue Language
dc.contributor.authorLiu, Ning-Pu-
dc.contributor.authorSmith, Clayton F-
dc.contributor.authorBowling, Brandy L-
dc.contributor.authorJonasson, Fridbert-
dc.contributor.authorKlintworth, Gordon K-
dc.date.accessioned2008-03-10T16:02:25Z-
dc.date.available2008-03-10T16:02:25Z-
dc.date.issued2006-10-02-
dc.date.submitted2008-03-10-
dc.identifier.citationMol. Vis. 2006, 12:1148-52en
dc.identifier.pmid17093400-
dc.identifier.urihttp://hdl.handle.net/2336/20272-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractPURPOSE: To identify CHST6 mutations in five additional Icelandic cases of macular corneal dystrophy (MCD) type I and in four families with MCD type II from Iceland. METHODS: Genomic DNA was extracted from blood leukocytes of patients with MCD, their healthy family members, and from control individuals. CHST6 mutations were determined by PCR-sequencing. Immunophenotypes of MCD were determined by measuring antigenic keratan sulfate (AgKS) levels in serum and by an immunohistochemical study on corneal tissue. RESULTS: Five additional cases of MCD type I and four families with MCD type II from Iceland were studied. A homozygous p.A128V mutation in the coding region of the CHST6 gene was identified in four of the five MCD type I cases. The other person with MCD type I was a compound heterozygote for p.A128V and a frameshift p.V6fs resulting from a 10-base pair insertion (c.15_16insATGCTGTGCG). Four of five individuals with MCD type II were compound heterozygotes for p.A128V and p.V329L, thus sharing the same p.A128V mutation as MCD type I. One patient with MCD type II was homozygous for p.V329L. The p.V329L mutation was only found in MCD type II patients. An analysis of the upstream region of CHST6 disclosed no upstream deletion or replacements in Icelandic patients with MCD type II. CONCLUSIONS: The findings fit the haplotype analysis that we reported previously in Icelandic MCD families and indicate that different mutations in CHST6 cause MCD type I and type II in Iceland.en
dc.language.isoenen
dc.publisherMolecular Visionen
dc.relation.urlhttp://www.molvis.org/molvis/v12/a130en
dc.subject.meshAlanineen
dc.subject.meshCorneal Dystrophies, Hereditaryen
dc.subject.meshDNA Transposable Elementsen
dc.subject.meshFemaleen
dc.subject.meshFrameshift Mutationen
dc.subject.meshHeterozygoteen
dc.subject.meshHomozygoteen
dc.subject.meshHumansen
dc.subject.meshIcelanden
dc.subject.meshImmunohistochemistryen
dc.subject.meshImmunophenotypingen
dc.subject.meshLeucineen
dc.subject.meshMaleen
dc.subject.meshMutationen
dc.subject.meshPedigreeen
dc.subject.meshPolymerase Chain Reactionen
dc.subject.meshSulfotransferasesen
dc.subject.meshValineen
dc.titleMacular corneal dystrophy types I and II are caused by distinct mutations in the CHST6 gene in Iceland.en
dc.typeArticleen
dc.identifier.eissn1090-0535-
dc.identifier.journalMolecular visionen

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