title: Clinical variability and genetic heterogeneity within the Acadian Usher population.
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.
authors.affiliation: University of Iowa Hospitals and Clinics, Iowa City.
authors.forename: R J
authors.initials: RJ
authors.lastname: Smith
authors.forename: M Z
authors.initials: MZ
authors.lastname: Pelias
authors.forename: S P
authors.initials: SP
authors.lastname: Daiger
authors.forename: B
authors.initials: B
authors.lastname: Keats
authors.forename: W
authors.initials: W
authors.lastname: Kimberling
authors.forename: J F
authors.initials: JF
authors.lastname: Hejtmancik
mesh_terms: D001766:Blindness / Q000235:genetics*; D002878:Chromosomes, Human, Pair 1; D005006:Ethnicity; D005260:Female; D005819:Genetic Markers; D006311:Hearing Disorders / Q000145:classification / Q000235:genetics*; D006801:Humans; D008145:Louisiana; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome
chemical_list: D005819:Genetic Markers