BBS Genotype-Phenotype Assessment of a Multiethnic Patient Cohort Calls for a Revision of the Disease Definition

被引：98

作者：

Deveault, Catherine ^{[1
,2
]}

Billingsley, Gail ^{[1
,2
]}

Duncan, Jacque L. ^{[3
]}

Bin, Jenea ^{[2
]}

Theal, Rebecca ^{[2
]}

Vincent, Ajoy ^{[1
,2
]}

Fieggen, Karen J. ^{[4
]}

Gerth, Christina ^{[1
]}

Noordeh, Nima ^{[1
,2
]}

Traboulsi, Elias I. ^{[5
]}

Fishman, Gerald A. ^{[6
]}

Chitayat, David ^{[7
,8
]}

Knueppel, Tanja ^{[9
]}

Millan, Jose M. ^{[10
,11
]}

Munier, Francis L. ^{[12
]}

Kennedy, Debra ^{[13
]}

Jacobson, Samuel G. ^{[14
]}

Innes, A. Micheil ^{[15
]}

Mitchell, Grant A. ^{[16
]}

Boycott, Kym ^{[17
]}

Heon, Elise ^{[1
,2
]}

机构：

[1] Hosp Sick Children, Dept Ophthalmol & Visual Sci, Toronto, ON M5G 1X8, Canada

[2] Hosp Sick Children, Genet & Genome Biol Program, Toronto, ON M5G 1X8, Canada

[3] UCSF, Dept Ophthalmol, San Francisco, CA USA

[4] Univ Cape Town, Div Human Genet, ZA-7925 Cape Town, South Africa

[5] Cleveland Clin Fdn, Cole Eye Inst, Cleveland, OH 44195 USA

[6] Univ Illinois, Dept Ophthalmol & Visual Sci, Chicago, IL USA

[7] Mt Sinai Hosp, Prenatal Diag & Med Genet Program, Toronto, ON M5G 1X5, Canada

[8] Hosp Sick Children, Dept Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

[9] Univ Childrens Hosp Heidelberg, Dept Pediat Nephrol, Heidelberg, Germany

[10] Hosp Univ La Fe, Unidad Genet, Valencia, Spain

[11] CIBERER, Valencia, Spain

[12] Hop Ophtalm Jules Gonin, Lausanne, Switzerland

[13] MotherSafe Royal Hosp Women, Randwick, NSW, Australia

[14] Univ Penn, Scheie Eye Inst, Philadelphia, PA 19104 USA

[15] Univ Calgary, Fac Med, Dept Med Genet, Calgary, AB, Canada

[16] CHU St Justine, Div Med Genet, Montreal, PQ, Canada

[17] Univ Ottawa, Childrens Hosp Eastern Ontario, Res Inst, Ottawa, ON, Canada

来源：

HUMAN MUTATION | 2011年 / 32卷 / 06期

基金：

瑞士国家科学基金会;

关键词：

Bardet-Biedl syndrome; BBS; mutation; sequencing; blindness; BARDET-BIEDL-SYNDROME; SYNDROME PROTEINS; HIRSCHSPRUNG-DISEASE; CILIARY MEMBRANE; SYNDROME FAMILY; MUTATIONS; COMPLEX; GENES; POPULATION; IDENTIFICATION;

D O I：

10.1002/humu.21480

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. Hum Mutat 32: 610-619, 2011. (C) 2011 Wiley-Liss, Inc.

引用

页码：610 / 619

页数：10

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