These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome.
    Author: Suzuki T, Takahashi K, Kuwahara S, Wada Y, Abe T, Tamai M.
    Journal: Am J Ophthalmol; 2001 Oct; 132(4):572-5. PubMed ID: 11589884.
    Abstract:
    PURPOSE: To report the ocular and genetic findings of a Japanese family with Axenfeld-Rieger syndrome associated with a novel Pro79Thr mutation in the FKHL7 gene. METHODS: Observational case series. Genomic DNA of patients from a family with Axenfeld-Rieger syndrome was extracted from leukocytes, and exons of the FKHL7 gene were amplified by polymerase chain reaction for direct sequencing. RESULTS: Molecular genetic analysis disclosed that one Japanese family with Axenfeld-Rieger syndrome had a heterozygous C to A transversion in the first nucleotide at codon 79, designated Pro79Thr mutation in the FKHL7 gene. CONCLUSION: Considering this novel Pro79Thr mutation together with previously reported findings, it is indicated that the clinical features of Axenfeld-Rieger syndrome may depend on the portion of the FKHL7 gene affected by the mutation, although more case reports are needed to clarify genotype-phenotype correlations of the FKHL7 gene.
    [Abstract] [Full Text] [Related] [New Search]