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Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25.
Eur J Hum Genet. 2000 Jan; 8(1):71-4.EJ

Abstract

Mutations in the forkhead-like 7 (FKHL7) gene have been recently shown to cause juvenile glaucoma and anterior segment anomalies. We report on a three-generation family with Axenfeld-Rieger syndrome (ARS), harboring an alteration in the FKHL7 gene. Genetic linkage analyses excluded the ARS phenotype from chromosomes 4q25 and 13q14, the locations of the PITX2 and RIEG2 loci, respectively. Evidence of linkage was observed with markers at 6p25, near the FKHL7 gene. Direct sequencing of FKHL7 detected a C67T mutation that segregated with the ARS phenotype in this family, but was not detected in over 80 control chromosomes. This mutation is predicted to cause a nonsense mutation of the FKHL7 protein (Gln23Stop) upstream of the forkhead DNA-binding domain, and thus to generate a truncated FKHL7 protein product. This discovery broadly implicates FKHL7 in ocular, craniofacial, dental, and umbilical development.

Authors+Show Affiliations

Department of Ophthalmology, University of Alberta, Edmonton, Canada.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10713890

Citation

Mirzayans, F, et al. "Axenfeld-Rieger Syndrome Resulting From Mutation of the FKHL7 Gene On Chromosome 6p25." European Journal of Human Genetics : EJHG, vol. 8, no. 1, 2000, pp. 71-4.
Mirzayans F, Gould DB, Héon E, et al. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. Eur J Hum Genet. 2000;8(1):71-4.
Mirzayans, F., Gould, D. B., Héon, E., Billingsley, G. D., Cheung, J. C., Mears, A. J., & Walter, M. A. (2000). Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. European Journal of Human Genetics : EJHG, 8(1), 71-4.
Mirzayans F, et al. Axenfeld-Rieger Syndrome Resulting From Mutation of the FKHL7 Gene On Chromosome 6p25. Eur J Hum Genet. 2000;8(1):71-4. PubMed PMID: 10713890.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. AU - Mirzayans,F, AU - Gould,D B, AU - Héon,E, AU - Billingsley,G D, AU - Cheung,J C, AU - Mears,A J, AU - Walter,M A, PY - 2000/3/14/pubmed PY - 2000/4/25/medline PY - 2000/3/14/entrez SP - 71 EP - 4 JF - European journal of human genetics : EJHG JO - Eur J Hum Genet VL - 8 IS - 1 N2 - Mutations in the forkhead-like 7 (FKHL7) gene have been recently shown to cause juvenile glaucoma and anterior segment anomalies. We report on a three-generation family with Axenfeld-Rieger syndrome (ARS), harboring an alteration in the FKHL7 gene. Genetic linkage analyses excluded the ARS phenotype from chromosomes 4q25 and 13q14, the locations of the PITX2 and RIEG2 loci, respectively. Evidence of linkage was observed with markers at 6p25, near the FKHL7 gene. Direct sequencing of FKHL7 detected a C67T mutation that segregated with the ARS phenotype in this family, but was not detected in over 80 control chromosomes. This mutation is predicted to cause a nonsense mutation of the FKHL7 protein (Gln23Stop) upstream of the forkhead DNA-binding domain, and thus to generate a truncated FKHL7 protein product. This discovery broadly implicates FKHL7 in ocular, craniofacial, dental, and umbilical development. SN - 1018-4813 UR - https://www.unboundmedicine.com/medline/citation/10713890/Axenfeld_Rieger_syndrome_resulting_from_mutation_of_the_FKHL7_gene_on_chromosome_6p25_ L2 - http://www.diseaseinfosearch.org/result/9542 DB - PRIME DP - Unbound Medicine ER -