Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome

European Journal of Human Genetics

Volumn 19, Issue 4, 2011, Pages 485-488

  Pereiro, Ines ^a   Hoskins, Bethan E ^b   Marshall, Jan D ^c   Collin, Gayle B ^c   Naggert, Jürgen K ^c   Pĩeiro Gallego, Teresa ^a   Oitmaa, Eneli ^d   Katsanis, Nicholas ^e   Valverde, Diana ^a   Beales, Philip L ^b  

^a UNIVERSITY OF VIGO   (Spain)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c JACKSON LABORATORY   (United States)

^d Asper Biotech   (Estonia)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

Author keywords

ALMS1; Alstr m syndrome; arrayed primer extension; Bardet Biedl syndrome; BBS; mutation analysis

Indexed keywords

ALLELE; ALSTROM SYNDROME; ARTICLE; BARDET BIEDL SYNDROME; COST EFFECTIVENESS ANALYSIS; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; PRIORITY JOURNAL;

ALLELES; ALSTROM SYNDROME; BARDET-BIEDL SYNDROME; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; GENETIC TESTING; HAPLOTYPES; HUMANS; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79952759676     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.207     Document Type: Article

References (11)

1. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA: New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 1999; 36: 437-446 (Pubitemid 29267741)
2. Marshall JD, Bronson RT, Collin GB et al: New Alström syndrome phenotypes based on the evaluation of 182 cases. Arch Intern Med 2005; 165: 675-683 (Pubitemid 40393151)
3. HearnT,RenforthGL,SpallutoCet al: Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome. Nat Gene 2002; 31: 79-83
4. Collin GB, Marshall JD, Ikeda A et al: Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alstrom syndrome. Nat Gene 2002; 31: 74-78
5. Zaghloul NA, Katsanis N: Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest 2009; 119: 428-437
6. Leitch CC, Zaghloul NA, Davis EE et al: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet 2008; 40: 443-448 (Pubitemid 351450887)
7. Shumaker JM, Metspalu A, Caskey CT: Mutation detection by solid phase primer extension. Hum Mutat 1996; 7: 346-354 (Pubitemid 26141299)
8. Marshall JD, Hinman EG, Collin GB et al: Spectrum of ALMS1 variants evaluation of genotype-phenotype correlations in Alström syndrome. Hum Mutat 2007; 28: 1114-1123 (Pubitemid 350036916)
9. Badano JL, Kim JC, Hoskins BE et al: Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus. Hum Mol Genet 2003; 12: 1651-1659 (Pubitemid 36896658)
10. Muller J, Stoetzel C, Vincent MC et al: Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease. Hum Genet 2010; 127: 583-593
11. Katsanis N, Ansley SJ, Badano JL et al: Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 2001; 293: 2256-2259. (Pubitemid 32900235)