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

doi:10.1002/ajmg.1320430612

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

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21 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 language	English (US)
Pages (from-to)	964-969
Number of pages	6
Journal	American journal of medical genetics
Volume	43
Issue number	6
DOIs	https://doi.org/10.1002/ajmg.1320430612
State	Published - 1992

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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10.1002/ajmg.1320430612

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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.",

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AU - Pelias, M. Z.

AU - Daiger, S. P.

AU - Keats, B.

AU - Kimberling, W.

AU - Hejtmancik, J. F.

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AB - 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.

KW - Usher genotype

KW - Usher phenotype

KW - Usher syndrome Type 1 (USH1)

KW - Usher syndrome Type 2 (USH2)

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Clinical variability and genetic heterogeneity within the Acadian Usher population

Abstract

Keywords

ASJC Scopus subject areas

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