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Title: Nonallelic heterogeneity in autosomal dominant retinitis pigmentosa with incomplete penetrance

Retinitis pigmentosa is a group of retinal diseases in which photoreceptor cells throughout the retina degenerate. Although there is considerable genetic heterogeneity (autosomal dominant, autosomal recessive, and X-linked forms exist), there is a possibility that some clinically defined subtypes of the disease may be the result of mutations at the same locus. One possible clinically defined subtype is that of autosomal dominant retinitis pigmentosa (ADRP) with incomplete penetrance. Whereas in most families with ADRP, carriers can be clearly identified because of visual loss, ophthalmological findings, or abnormal electroretinograms (ERGs), in occasional families some obligate carriers are asymptomatic and have normal or nearly normal ERGs even late in life. A recent paper reported the mapping of the diseases locus in one pedigree (designated adRP7) with ADRP with incomplete penetrance to chromosome 7p. To test the idea that ADRP with incomplete penetrance may be genetically homogeneous, we have evaluated whether a different family with incomplete penetrance also has a disease gene linked to the same region. 4 refs., 1 fig., 1 tab.
Authors:
; ;  [1]
  1. Harvard Medical School, Boston, MA (United States) [and others
Publication Date:
OSTI Identifier:
186041
Resource Type:
Journal Article
Resource Relation:
Journal Name: Genomics; Journal Volume: 22; Journal Issue: 3; Other Information: PBD: Aug 1994
Country of Publication:
United States
Language:
English
Subject:
55 BIOLOGY AND MEDICINE, BASIC STUDIES; GENES; GENETIC MAPPING; GENE MUTATIONS; HUMAN CHROMOSOME 7; SENSE ORGANS DISEASES; GENETICS; PATIENTS; HEREDITARY DISEASES; DOMINANT MUTATIONS; STATISTICS; BIOLOGICAL MARKERS