Genetics of anterior segment dysgenesis disorders

Current Opinion in Ophthalmology

Volumn 22, Issue 5, 2011, Pages 314-324

  Reis, Linda M ^a   Semina, Elena V ^a  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

Author keywords

anterior segment dysgenesis; Axenfeld Rieger anomaly; gene; inheritance; Peters anomaly

Indexed keywords

BONE MORPHOGENETIC PROTEIN 4; COLLAGEN TYPE 4; CONNEXIN 47; CYTOCHROME P450 1B1; FIBROBLAST GROWTH FACTOR RECEPTOR 2; FORKHEAD TRANSCRIPTION FACTOR; GALACTOSYLTRANSFERASE; JAGGED1; OSTEOGENIC PROTEIN 1; TRANSCRIPTION FACTOR FOXC1; TRANSCRIPTION FACTOR FOXC2; TRANSCRIPTION FACTOR PAX6; TRANSCRIPTION FACTOR PITX2; TRANSCRIPTION FACTOR PITX3; TRANSCRIPTION FACTOR SOX2;

ACROCEPHALOSYNDACTYLY; ANTERIOR SEGMENT DYSGENESIS; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CROUZON SYNDROME; DISEASE ASSOCIATION; EYE DEVELOPMENT; EYE DISEASE; GENE; GENE DELETION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; GENETIC IDENTIFICATION; GENETIC SCREENING; GENETICS; HUMAN; HYBRIDIZATION; PETERS ANOMALY; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

ADOLESCENT; ADULT; ANTERIOR EYE SEGMENT; CHILD; EYE ABNORMALITIES; GENE DELETION; GENE EXPRESSION REGULATION; GENETIC COUNSELING; GENETIC HETEROGENEITY; HUMANS; MALE; MIDDLE AGED; MUTATION; PHENOTYPE; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 80051790236     PISSN: 10408738     EISSN: 15317021     Source Type: Journal    
DOI: 10.1097/ICU.0b013e328349412b     Document Type: Review

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118. Chaabouni M, Etchevers H, De Blois MC, et al. Identification of the IRXB gene cluster as candidate genes in severe dysgenesis of the ocular anterior segment. Invest Ophthalmol Vis Sci 2010;51:4380-4386. The authors provide analysis of a very complicated chromosomal rearrangement in a patient with aniridia, aphakia, corneal anomalies, and congenital glaucoma. They suggest that disregulation of the IRXB gene cluster is responsible for the phenotype.
119. Hanna NN, Eickholt K, Agamanolis D, et al. Atypical Peters plus syndrome with new associations. J AAPOS 2010;14:181-183.
120. Kuhlenbaumer G, Hullmann J, Appenzeller S. Hum Mutat 2011;32:144-151. Not specific to ocular disorders, but provides a nice review of the new genomic technologies and applications to understanding genetic diseases.