Abstract
Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment for which 15 causative genes have been identified. Here we present the results of a mutational analysis of our multiethnic cohort of 83 families (105 cases); 75.9% of them have their mutations identified including 26 novel changes. Comprehensive phenotyping of these patients demonstrate that the spectrum of clinical features is greater than expected and overlapped with the features of other ciliopathies; specifically Alström and McKusick-Kauffman syndromes.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / genetics
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Abnormalities, Multiple / pathology
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Adolescent
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Adult
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Alstrom Syndrome / diagnosis
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Alstrom Syndrome / genetics
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Alstrom Syndrome / pathology
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Bardet-Biedl Syndrome / classification*
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Bardet-Biedl Syndrome / diagnosis*
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Bardet-Biedl Syndrome / genetics
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Child
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Child, Preschool
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DNA Mutational Analysis
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Ethnicity / genetics
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Female
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Genetic Association Studies
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Heart Defects, Congenital / diagnosis
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Heart Defects, Congenital / genetics
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Heart Defects, Congenital / pathology
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Humans
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Hydrocolpos / diagnosis
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Hydrocolpos / genetics
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Hydrocolpos / pathology
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Infant
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Male
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Middle Aged
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Mutation / genetics*
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Polydactyly / diagnosis
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Polydactyly / genetics
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Polydactyly / pathology
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Uterine Diseases / diagnosis
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Uterine Diseases / genetics
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Uterine Diseases / pathology
Supplementary concepts
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McKusick Kaufman syndrome