A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome

American Journal of Ophthalmology

Volumn 132, Issue 4, 2001, Pages 572-575

  Suzuki, Takefumi ^a   Takahashi, Kana ^a   Kuwahara, Soichiro ^a   Wada, Yuko ^a   Abe, Toshiaki ^a   Tamai, Makoto ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; AXENFIELD RIEGER SYNDROME; CHROMOSOME 6P; CLINICAL ARTICLE; CLINICAL FEATURE; EYE DISEASE; FAMILY STUDY; FEMALE; GENE MUTATION; GLAUCOMA; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADULT; ALLELES; ANTERIOR EYE SEGMENT; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; EYE ABNORMALITIES; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GLAUCOMA; HUMANS; INFANT; JAPAN; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0034800986     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(01)01059-5     Document Type: Article

References (7)

1. Shields MB, Buckley E, Klintworth GK, Thresher R. Axenfeld-Rieger syndrome. A spectrum of developmental disorders. Surv Ophthalmol 1985;29:387-409.
2. Semina EV, Reiter R, Leysens NJ, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996;14:392-399.
3. Alward WL, Semina EV, Kalenak JW, et al. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol 1998;125:98-100.
4. Pierrou S, Hellqvist M, Samuelsson L, Enerback S, Carlsson P. Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending. EMBO J 1994;13:5002-5012.
5. Nishimura DY, Swiderski RE, Alward WL, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet 1998;19:140-147.
6. Mears AJ, Jordan T, Mirzayans F, et al. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet 1998;63:1316-1328.
7. Mirzayans F, Gould DB, Heon E, et al. Axenfeld-Rieger syndrome resulting from mutation of the FKHL7 gene on chromosome 6p25. Eur J Human Genet 2000;8:71-74.