An autosomal dominant posterior polar cataract locus maps to human chromosome 20p12-q12

Koki Yamada, Hiro Aki Tomita, Koh Ichiro Yoshiura, Shinji Kondo, Keiko Wakui, Yoshimitsu Fukushima, Shiro Ikegawa, Yusuke Nakamura, Tsugio Amemiya, Norio Niikawa

Research output: Contribution to journalArticlepeer-review

24 Citations (Scopus)

Abstract

We assigned the locus for a previously reported new type of autosomal dominant posterior polar cataract (CPP3) to 20p12-q12 by a genome-wide two-point linkage analysis with microsatellite markers. CPP3 is characterized by progressive, disc-shaped, posterior subcapsular opacity. The disease was seen in 10 members of a Japanese family and transmitted in an autosomal dominant fashion through four generations. We obtained a maximum lod score (Z(max)) of 3.61 with a recombination fraction (θ) of 0.00 for markers D20S917, D20S885 and D20S874. Haplotype analysis gave the disease gene localization at a 15.7-cM interval between D20S851 and D20S96 loci on chromosome 20p12-q12. Since the BFSP1 that encodes the lens-specific beaded filament structural protein 1 (filensin) has been mapped around the CPP3 region, we performed sequence analysis on its entire coding region. However, no base substitution or deletion was detected in the CPP3 patients. The mapping of the CPP3 locus to 20p12-q12 not only expands our understanding of the genetic heterogeneity in autosomal dominant posterior polar cataracts but also is a clue for the positional cloning of the disease gene.

Original languageEnglish
Pages (from-to)535-539
Number of pages5
JournalEuropean Journal of Human Genetics
Volume8
Issue number7
DOIs
Publication statusPublished - 2000 Jul
Externally publishedYes

Keywords

  • Autosomal dominant congenital cataract
  • BFSP1
  • Chromosome 20
  • Filensin
  • Haplotype analysis
  • Linkage analysis
  • Mapping
  • Posterior polar cataract

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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