Clinical variability and genetic heterogeneity within the Acadian Usher population

R. J.H. Smith, M. Z. Pelias, S. P. Daiger, B. Keats, W. Kimberling, J. F. Hejtmancik

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

A number of Usher syndrome (USH) families are found among the French- Acadians living in southwestern Louisiana. These families are descended from a few common ancestors, suggesting that USH may be homogeneous within this ethnic group. However, we report distinct phenotypic variability. Based on differences in psychomotor development and tests of auditory and vestibular function, Acadian individuals with both USH Type 1 and Type 2 can be identified. One additional family, with unusual findings, represents a third clinical phenotype. Linkage data strongly support these clinical observations.

Original languageEnglish (US)
Pages (from-to)964-969
Number of pages6
JournalAmerican journal of medical genetics
Volume43
Issue number6
DOIs
StatePublished - 1992
Externally publishedYes

Keywords

  • Usher genotype
  • Usher phenotype
  • Usher syndrome Type 1 (USH1)
  • Usher syndrome Type 2 (USH2)

ASJC Scopus subject areas

  • Genetics(clinical)

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