Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25 View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2000-01

AUTHORS

Alan J Mears, Douglas B Gould, E Héon, Farideh Mirzayans, Gail D Billingsley, Jason C Cheung, Michael A Walter

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. More... »

PAGES

71

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.ejhg.5200354

DOI

http://dx.doi.org/10.1038/sj.ejhg.5200354

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1007942567

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10713890


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