Clinical variability and genetic heterogeneity within the Acadian Usher population
| Autor: | J. F. Hejtmancik, Stephen P. Daiger, Bronya J.B. Keats, William J. Kimberling, Richard J.H. Smith, M. Z. Pelias |
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| Rok vydání: | 1992 |
| Předmět: |
Genetic Markers
Male Hearing loss Usher syndrome Population Ethnic group Biology Blindness Genotype Ethnicity medicine Humans education Hearing Disorders Genetics (clinical) Psychomotor learning education.field_of_study Genetic heterogeneity fungi Syndrome Louisiana medicine.disease Phenotype Pedigree Chromosomes Human Pair 1 Evolutionary biology Female medicine.symptom |
| Zdroj: | American Journal of Medical Genetics. 43:964-969 |
| ISSN: | 1096-8628 0148-7299 |
| Popis: | 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. © 1992 Wiley-Liss, Inc. |
| Databáze: | OpenAIRE |
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