BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

American Journal of Human Genetics

Volumn 71, Issue 1, 2002, Pages 22-29

  Katsanis, Nicholas ^a,b,c   Eichers, Erica R ^a   Ansley, Stephen J ^a   Lewis, Richard Alan ^a   Kayserili, Hülya ^d   Hoskins, Bethan E ^e   Scambler, Peter J ^e   Beales, Philip L ^e   Lupski, James R ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c JOHNS HOPKINS UNIVERSITY   (United States)

^d ISTANBUL UNIVERSITY   (Turkey)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN BBS1; PROTEIN BBS3; PROTEIN BBS4; PROTEIN BBS5; PROTEIN BBS6; PRTOEIN BBS2; UNCLASSIFIED DRUG;

ALLELISM; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BARDET BIEDL SYNDROME; ETHNOLOGY; GENE FUNCTION; GENE LOCUS; GENE MAPPING; GENE MUTATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MOLECULAR CLONING; MULTIGENE FAMILY; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL;

EID: 0036305311     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/341031     Document Type: Article

References (18)

1. New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey
2. Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci
3. Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15
4. The cardinal manifestations of Bardet-Biedl syndrome, a form of Lawrence-Moon-Biedl syndrome
5. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder
6. Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome
7. A novel C-terminal binding protein (CTBP2) is closely related to CTBP1, an adenovirus E1A-binding protein, and maps to human chromosome 21q21.3
8. Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees
9. Exploring the molecular basis of Bardet-Biedl syndrome
10. Identification and mapping of a novel human gene, HRMT1L1, homologous to the rat protein arginine N-methyltransferase 1 (PRMT1) gene
11. Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity
12. Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous
13. Interference of nonsense mutations with eukaryotic messenger RNA stability
14. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
15. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)
16. Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping
17. Mutations in MKKS cause Bardet-Biedl syndrome
18. A fifth locus for Bardet-Biedl syndrome maps to 2q31