Comprehensive molecular diagnosis of bardet-biedl syndrome by high-throughput targeted exome sequencing

PLoS ONE

Volumn 9, Issue 3, 2014, Pages

  Xing, Dong Jun ^a,b   Zhang, Hong Xing ^c   Huang, Na ^b   Wu, Kun Chao ^a,b   Huang, Xiu Feng ^a,b   Huang, Fang ^a,b   Tong, Yi ^d   Pang, Chi Pui ^e   Qu, Jia ^b   Jin, Zi Bing ^a,b  

^a EYE HOSPITAL OF WENZHOU MEDICAL UNIVERSITY   (China)

^b BEIJING HOSPITAL   (China)

^c Jinan Second People's Hospital   (China)

^d Fuzhou Southeast Eye Hospital   (China)

^e CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; ADENOSINE DIPHOSPHATE RIBOSYLATION FACTOR; ARL6 PROTEIN, HUMAN; BBS2 PROTEIN, HUMAN; CHAPERONIN; MKKS PROTEIN, HUMAN; MKS1 PROTEIN, HUMAN; PROTEIN;

ARL6 GENE; ARTICLE; BARDET BIEDL SYNDROME; BBS2 GENE; BIOINFORMATICS; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DNA SEQUENCE; EXOME; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; HUMAN; LOSS OF FUNCTION MUTATION; MALE; MISSENSE MUTATION; MKKS GENE; MKS1 GENE; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PEDIGREE ANALYSIS; RETINITIS PIGMENTOSA; SEGREGATION ANALYSIS; TARGETED EXOME SEQUENCING; BIOLOGY; GENETICS; MUTATION; PROCEDURES;

ADP-RIBOSYLATION FACTORS; BARDET-BIEDL SYNDROME; COMPUTATIONAL BIOLOGY; EXOME; FEMALE; GROUP II CHAPERONINS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; PROTEINS;

EID: 84897554873     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0090599     Document Type: Article

References (27)

1. Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, et al. (2001) Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder. Science 293: 2256-2259. (Pubitemid 32900235)
2. Badano JL, Kim JC, Hoskins BE, Lewis RA, Ansley SJ, et al. (2003) 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 12: 1651-1659.
3. Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, et al. (2012) Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alstrom syndromes. J Med Genet 49: 502-512.
4. Forsythe E, Beales PL (2013) Bardet-Biedl syndrome. Eur J Hum Genet 21: 8-13.
5. Sheffield VC, Stone EM (2011) Genomics and the eye. N Engl J Med 364: 1932-1942.
6. Chou J, Ohsumi TK, Geha RS (2012) Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies. Curr Opin Allergy Clin Immunol 12: 623-628.
7. Summerer D, Schracke N, Wu H, Cheng Y, Bau S, et al. (2010) Targeted high throughput sequencing of a cancer-related exome subset by specific sequence capture with a fully automated microarray platform. Genomics 95: 241-246.
8. Lieber DS, Calvo SE, Shanahan K, Slate NG, Liu S, et al. (2013) Targeted exome sequencing of suspected mitochondrial disorders. Neurology 80: 1762-1770.
9. Huang XF, Xiang P, Chen J, Xing DJ, Huang N, et al. (2013) Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families. PLoS One 8: e63832.
10. He J, Wu J, Jiao Y, Wagner-Johnston N, Ambinder RF, et al. (2011) IgH gene rearrangements as plasma biomarkers in Non-Hodgkin's lymphoma patients. Oncotarget 2: 178-185.
11. Wu J, Matthaei H, Maitra A, Dal Molin M, Wood LD, et al. (2011) Recurrent GNAS mutations define an unexpected pathway for pancreatic cyst development. Sci Transl Med 3: 92ra66.
12. Cox MP, Peterson DA, Biggs PJ (2010) SolexaQA: At-a-glance quality assessment of Illumina second-generation sequencing data. BMC Bioinformatics 11: 485.
13. Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, et al. (2009) The Sequence Alignment/Map format and SAMtools. Bioinformatics 25: 2078-2079.
14. Li R, Yu C, Li Y, Lam TW, Yiu SM, et al. (2009) SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics 25: 1966-1967.
15. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, et al. (2010) The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20: 1297-1303.
16. Hou H, Zhao F, Zhou L, Zhu E, Teng H, et al. (2010) MagicViewer: integrated solution for next-generation sequencing data visualization and genetic variation detection and annotation. Nucleic Acids Res 38: W732-736.
17. Jin ZB, Mandai M, Yokota T, Higuchi K, Ohmori K, et al. (2008) Identifying pathogenic genetic background of simplex or multiplex retinitis pigmentosa patients: a large scale mutation screening study. J Med Genet 45: 465-472. (Pubitemid 351977138)
18. Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey. J Med Genet 36: 437-446. (Pubitemid 29267741)
19. Kuehn BM (2008) 1000 Genomes Project promises closer look at variation in human genome. JAMA 300: 2715.
20. Mason JM, Arndt KM (2004) Coiled coil domains: stability, specificity, and biological implications. Chembiochem 5: 170-176. (Pubitemid 39256232)
21. M'Hamdi O, Ouertani I, Maazoul F, Chaabouni-Bouhamed H (2011) Prevalence of Bardet-Biedl syndrome in Tunisia. J Community Genet 2: 97-99.
22. Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, et al. (1989) The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 321: 1002-1009. (Pubitemid 19253414)
23. Abu-Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, et al. (2012) In search of triallelism in Bardet-Biedl syndrome. Eur J Hum Genet 20: 420-427.
24. Yang Z, Yang Y, Zhao P, Chen K, Chen B, et al. (2008) A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family. Mol Vis 14: 2304-2308.
25. Chen X, Zhao K, Sheng X, Li Y, Gao X, et al. (2013) Targeted sequencing of 179 genes associated with hereditary retinal dystrophies and 10 candidate genes identifies novel and known mutations in patients with various retinal diseases. Invest Ophthalmol Vis Sci 54: 2186-2197.
26. Janssen S, Ramaswami G, Davis EE, Hurd T, Airik R, et al. (2011) Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Hum Genet. 129:79-90.
27. Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peränen J, et al. (2007) A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell 129:1201-1213. (Pubitemid 46891037)