Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts

F. S. Bodker, M. A. Lavery, T. N. Mitchell, E. W. Lovrien, I. H. Maumenee

Research output: Contribution to journalArticle

Abstract

A family with autosomal dominant congenital cataracts was studied to determine clinical variability. A total of 159 relatives was ascertained; 17 affected and 19 normal individuals were evaluated and their blood sampled for inclusion in the linkage analysis. The disease was compatible with normal to mildly decreased visual acuity until adult life in all affected except the product of a consanguineous marriage of affected first cousins who was born with bilateral microphthalmos and dense congenital cataracts, attributed to homozygosity of the cataract gene. There were no extraocular abnormalities; the patient was of normal intelligence. Twenty-three markers were typed, 18 of which were informative. Linkage could be excluded for all 18 markers at short distances.

Original languageEnglish (US)
Pages (from-to)54-59
Number of pages6
JournalAmerican journal of medical genetics
Volume37
Issue number1
DOIs
StatePublished - 1990

Keywords

  • autosomal dominant cataracts
  • cerulean
  • consanguineous
  • homozygous
  • lens crystallin protein
  • linkage
  • lod score
  • murine cataract loci
  • red cell and enzymatic markers

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Fingerprint Dive into the research topics of 'Microphthalmos in the presumed homozygous offspring of a first cousin marriage and linkage analysis of a locus in a family with autosomal dominant cerulean congenital cataracts'. Together they form a unique fingerprint.

  • Cite this