BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

Autor:	Jenea M. Bin, Samuel G. Jacobson, Debra Kennedy, Rebecca Theal, Karen Fieggen, Christina Gerth, Tanja Knueppel, David Chitayat, Jacque L. Duncan, Nima Noordeh, Gail Billingsley, Elias I. Traboulsi, Ajoy Vincent, Kym M. Boycott, Elise Heon, Gerald A. Fishman, Francis L. Munier, José M. Millán, Catherine Deveault, A. Micheil Innes, Grant A. Mitchell
Přispěvatelé:	University of Zurich, Héon, E
Rok vydání:	2010
Předmět:	10018 Ophthalmology Clinic BBS2 Adult Heart Defects Congenital Male 2716 Genetics (clinical) Pediatrics medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities BBS1 Adolescent DNA Mutational Analysis BBS10 610 Medicine & health Biology Ciliopathies 03 medical and health sciences 0302 clinical medicine 1311 Genetics Bardet–Biedl syndrome Genetics medicine Ethnicity Humans Abnormalities Multiple Child Bardet-Biedl Syndrome Genetics (clinical) Alstrom Syndrome Genetic Association Studies 030304 developmental biology Uterine Diseases 0303 health sciences Polydactyly Infant Hydrocolpos Middle Aged medicine.disease Ciliopathy Child Preschool Cohort Mutation Female 030217 neurology & neurosurgery
Zdroj:	HUMAN MUTATION r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe instname Human mutation
ISSN:	1098-1004 1059-7794
Popis:	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 Alstrom and McKusick-Kauffman syndromes.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::052ada25bb9478f2446a3153115b8e85 https://pubmed.ncbi.nlm.nih.gov/21344540 Zobrazit plný text záznamu Plný text