Posterior polar cataract: Genetic analysis of a large family

Ophthalmic Genetics

Volumn 26, Issue 3, 2005, Pages 125-130

  Finzi, Simone ^a,b   Li, Yingying ^a   Mitchell, Thomas N ^a   Farr, Arman ^a   Maumenee, Irene H ^a   Sallum, Juliana M F ^b   Sundin, Olof ^a  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Cataracts; Congenital; Genetics; Linkage

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CATARACT; CHROMOSOME 10Q; CLINICAL ARTICLE; FAMILIAL DISEASE; GENE DUPLICATION; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; PHENOTYPE; PRIORITY JOURNAL;

AMINO ACID SEQUENCE; BASE SEQUENCE; CATARACT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 10; EXONS; FEMALE; GENE DUPLICATION; GENETIC HETEROGENEITY; HAPLOTYPES; HOMEODOMAIN PROTEINS; HUMANS; LINKAGE (GENETICS); MALE; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS;

EID: 32044445518     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.1080/13816810500229124     Document Type: Article

References (15)

1. He W, Li S. Congenital cataracts: gene mapping. Hum Genet. 2000;106(1):1-13.
2. Francis PJ, Berry V, Bhattacharya SS, Moore AT. The genetics of childhood cataract. J Med Genet. 2000;37:481-488.
3. Ionides A, Francis P, Berry V, Mackay D, Bhattacharya S, Shiels A, Moore A. Clinical and genetic heterogeneity in autosomal dominant congenital cataract. Br J Ophthalmol. 1999;83:802-808.
4. Ionides ACW, Berry V, Mackay DS, Moore AT, Bhattacharya SS, Shiels A. A locus for autosomal dominant posterior polar cataract on chromosome 1p. Hum Mol Genet. 1997;6:47-51.
5. Berry V, Francis P, Reddy MA, Collyer D, Vithana E, MacKay I, Dawson G, Carey AH, Moore A, Bhattacharya SS, Quinlan RA. Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. Am J Hum Genet. 2001;69:1141-1145
6. Richards J, Maumenee IH, Rowe S, Lovrien EW. Congenital cataract possibly linked to haptoglobin. Cytogenet Cell Genet. 1984;37:570.
7. Yamada K, Tomita H, Yoshiura K, Kondo S, Wakui K, Fukushima Y, Ikegawa S, Nakamura Y, Amemiya T, Niikawa N. An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12. Eur J Hum Genet. 2000;8(7):535-539.
8. Semina EV, Reiter RS, Murray JC. Isolation of a new homeobox gene belonging to the Pitx/Rieg family: expression during lens development and mapping to the aphakia region on mouse chromosome 19. Hum Mol Genet. 1997;6:2109-2116.
9. Semina EV, Ferrell RE, Mintz-Hittner HA, Bitoun P, Alward WL, Reiter RS, Funkhauser C, Daack-Hirsch S, Murray JC. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD. Nat Genet. 1998;19:167-170.
10. Berry V, Yang Z, Addison PKF, Francis PJ, Ionides A, Karan, Jiang L, Lin W, Hu J, Yang R, Moore A, Zhang K, Bhattacharya SS. Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4). J Med Genet. 2004;41(8):e109.
11. Finzi S, Li Y, Sallum JMF, Mitchell TN, Farr A, Sundin O, Maumenee IH. Posterior polar cataract: clinical spectrum and genetic analysis in a large family. 52nd Annual Meeting of the American Society of Human Genetics. October 16-19, 2002, Baltimore, Maryland.
12. Finzi S, Li Y, Sallum JMF, Mitchell TN, Farr A, Sundin O, Maumenee IH. Posterior polar cataract caused by a recurrent mutation in PITX3. Association for Research in Vision and Ophthalmology. 2003 Annual Meeting, May 4-9, 2003, Fort Lauderdale, Florida.
13. Finzi S, Li Y, Sallum JMF, Mitchell TN, Farr A, Sundin O, Maumenee IH. Catarata polar posterior: aspectos clínicos e análise genética em uma grande família. Arq Bras Oftalmol. 2004;67(4 Supl):120-132.
14. Finzi S. Análise genética em catarata polar posterior (Doctoral thesis). São Paulo, SP, Brazil: Departamento de Oftalmologia, Universidade Federal de São Paulo, 2003.
15. Addison PKF, Berry V, Ionides ACW, Francis PJ, Bhattacharya SS, Moore AT. Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene. Br J Ophthalmol. 2005;89:138-141.