Case of novel PITX2 gene mutation associated with Peters' anomaly and persistent hyperplastic primary vitreous

Eye

Volumn 24, Issue 2, 2010, Pages 391-393

  Arikawa, A ^a   Yoshida, S ^a   Yoshikawa, H ^a   Ishikawa, K ^a   Yamaji, Y ^a   Arita, R I ^a   Ueno, A ^a   Ishibashi, T ^a  

^a KYUSHU UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR FOXC1; TRANSCRIPTION FACTOR PITX2;

ANTERIOR EYE CHAMBER DEPTH; BIOMICROSCOPY; CASE REPORT; CHROMOSOME 6P; CHROMOSOME DELETION; CILIARY BODY; CILIARY DISK; COMPUTER ASSISTED TOMOGRAPHY; CORNEA OPACITY; DISEASE ASSOCIATION; EYE SYNECHIA; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; INFANT; LENS SUBLUXATION; LENSECTOMY; LETTER; LEUKOKORIA; MALE; MICROPHTHALMIA; MOLECULAR GENETICS; NEURAL CREST CELL; PERSISTENT HYPERPLASTIC PRIMARY VITREOUS; PETERS ANOMALY; PROTEIN LOCALIZATION; SEQUENCE ANALYSIS; SLIT LAMP; VITRECTOMY;

EID: 77049109435     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.2009.114     Document Type: Letter

References (5)

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3. Evans AL, Gage PJ. Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development. Hum Mol Genet 2005; 14: 3347-3359.
4. Berry FB, Lines MA, Oas JM, Footz T, Underhill DA, Gage PJ et al. Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. Hum Mol Genet 2006; 15: 905-919.
5. Suzuki K, NakamuraM, Amano E, Mokuno K, Shirai S, Terasaki H et al. Case of chromosome 6p25 terminal deletion associated with Axenfeld-Rieger syndrome and persistent hyperplastic primary vitreous. Am J Med Genet A 2006; 140: 503-508.