2011
DOI: 10.1002/humu.21480
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BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

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 overlapp… Show more

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Cited by 111 publications
(149 citation statements)
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“…4,17,19 This may occur independently or in conjunction with biochemical hypogonadism. A wide variety of genital malformations have been observed in females, contributing to the low rates of fertility in BBS.…”
Section: Clinical Overviewmentioning
confidence: 99%
See 3 more Smart Citations
“…4,17,19 This may occur independently or in conjunction with biochemical hypogonadism. A wide variety of genital malformations have been observed in females, contributing to the low rates of fertility in BBS.…”
Section: Clinical Overviewmentioning
confidence: 99%
“…4 Children with BBS are often reported to have labile behaviour with outbursts of frustration. 4,17,19 Many prefer to have a fixed routine and may have elements of obsessive compulsive behaviour and lack of social dominance. 4 Others have a more severe behavioural phenotype and develop autistic spectrum disorder or psychosis.…”
Section: Clinical Overviewmentioning
confidence: 99%
See 2 more Smart Citations
“…18 Although other ciliopathies syndromes including Bardet-Biedl and Kartagener's syndrome have been associated with significant cardiac involvement, potential conduction system and arrhythmia involvement remains unknown. 19 Accurate description of the frequency of ECG abnormalities and associated arrhythmias in patients with Alström syndrome compared to other cardiomyopathy cohorts is needed to delineate whether these abnormalities are secondary to the dilated cardiomyopathy phenotype or potentially related to the ALMS1 mutation itself.…”
Section: Discussionmentioning
confidence: 99%