Clinical variability and genetic heterogeneity within the Acadian Usher population
- 1 August 1992
- journal article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 43 (6) , 964-969
- https://doi.org/10.1002/ajmg.1320430612
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.Keywords
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