Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations

Investigative Ophthalmology and Visual Science

Volumn 41, Issue 9, 2000, Pages 2456-2460

  Perveen, R ^a   Lloyd, I C ^a   Clayton Smith, J ^a   Churchill, A ^a   Van Heyningen, V ^a   Hanson, I ^a   Taylor, D ^a   McKeown, C ^a   Super, M ^a   Kerr, B ^a   Winter, R ^a   Black, G C M ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CELL DNA;

ANIRIDIA; ANTERIOR EYE SEGMENT; ARTICLE; CHROMOSOMAL LOCALIZATION; CONTROLLED STUDY; DISEASE ASSOCIATION; DNA SEQUENCE; FAMILIAL DISEASE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; PETERS ANOMALY; PHENOTYPE; PRIORITY JOURNAL; RIEGER SYNDROME;

ANTERIOR EYE SEGMENT; DNA MUTATIONAL ANALYSIS; EYE DISEASES, HEREDITARY; EYE PROTEINS; FEMALE; HETERODUPLEX ANALYSIS; HOMEODOMAIN PROTEINS; HUMANS; IRIS; MALE; MUTATION; NUCLEAR PROTEINS; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SYNDROME; TRANSCRIPTION FACTORS; UVEAL DISEASES;

EID: 0033867411     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (25)

1. Beitraege zur Kenntnis seltener Missbildungen der Iris: Ueber Hypoplasie des Irisvorderblattes mit Verlagerung und Entrundung der Pupille
2. Umbilical dysmorphology: The importance of contemplating the belly button
3. Oral manifestations of the Rieger syndrome: Report of a case
4. Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4
5. Rieger syndrome with de novo reciprocal translocation t(1;4)(q23.1;q25)
6. Evidence that Rieger syndrome maps to 4q25 or 4q27
7. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
8. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene
9. A Mutation in the RIEG1 gene in patients with iridogoniodysgenesis syndrome
10. A second locus for Rieger syndrome maps to chromosome 13q14
11. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD
12. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
13. Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly
14. A locus for autosomal dominant anterior polar cataract on chromosome 17p
15. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations
16. A mutation in the RIEG1 gene associated with Peters' anomaly
17. Heterogeneity in dominant anterior segment malformations
18. Pitx2, a bicoid-type homeobox gene, is involved in a lefty-signaling pathway in determination of left-right asymmetry
19. The transcription factor Pitx2 mediates situs-specific morphogenesis in response to left-right asymmetric signals
20. Pitx2 participates in the late phase of the pathway controlling left-right asymmetry
21. Function and evolution of Otx proteins
22. The Xenopus homologue of Otx2 is a maternal homeobox gene that demarcates and specifies anterior body regions
23. Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene