Linkage analysis in an Amish family with Leber congenital amaurosis

J. M. Robitaille, L. K. Palincsar, D. Zhu, I. E. Maumenee Hussels

Research output: Contribution to journalArticle

Abstract

Purpose. Leber congenital amaurosis (LCA) is an autosomal recessive retinal disorder associated with severe visual loss from birth. Camuzet et al mapped the disease in five Maghrebian families to a narrow region on chromosome 17p13. They were, however, unable to find significant linkage in their families of French ancestry. The purpose of this study was to evaluate a large inbred Amish family (24 participants) with three affected members (two siblings and a cousin) to identify the locus involved in LCA in this family. Methods. A whole genome screen was initiated starting with chromosome 17p. Results. A search in the same region as that reported for the Maghrebian families using two markers, D17S938 and D17S786, within a 2.9 cM area did not show linkage; two of the affected individuals were heterozygous for the first marker and all three were heterozygous for the second. Conclusions. No linkage was found for LCA in a small region of 17p13 in this Amish family. This result is not unexpected as Waardenburg reported a family with associative mating of two affected resulting in normal offspring, suggesting genetic heterogeneity.

Original languageEnglish (US)
Pages (from-to)S998
JournalInvestigative Ophthalmology and Visual Science
Volume37
Issue number3
StatePublished - Feb 15 1996

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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    Robitaille, J. M., Palincsar, L. K., Zhu, D., & Maumenee Hussels, I. E. (1996). Linkage analysis in an Amish family with Leber congenital amaurosis. Investigative Ophthalmology and Visual Science, 37(3), S998.