Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

BMC Medical Genetics

Volumn 17, Issue 1, 2016, Pages

  Khan, Muzammil Ahmad ^a,c   Mohan, Sumitra ^b   Zubair, Muhammad ^a   Windpassinger, Christian ^b  

^a GOMAL UNIVERSITY   (Pakistan)

^b MEDICAL UNIVERSITY OF GRAZ   (Austria)

^c HAMAD MEDICAL CORPORATION   (Qatar)

Author keywords

BBS syndrome; BBS9 gene; Consanguinity; Homozygosity mapping; Protein truncation; PTHB1 domain; SNP microarray

Indexed keywords

AMINO ACID; LEUCINE; MEMBRANE PROTEIN; PROTEIN BBS9; PROTEIN PTHB1; SERINE; UNCLASSIFIED DRUG; BBS9 PROTEIN, HUMAN; TUMOR PROTEIN;

ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BARDET BIEDL SYNDROME; BBS9 GENE; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE LOCUS; GENE MAPPING; GENE SEGREGATION; GENETIC ASSOCIATION; GENOTYPE; HOMOZYGOSITY; HUMAN; INTELLECTUAL IMPAIRMENT; KIDNEY DISEASE; MALE; MICROARRAY KIT; MUTATIONAL ANALYSIS; OBESITY; PHENOTYPE; POLYDACTYLY; PROTEIN DEPLETION; PROTEIN DOMAIN; PTHB1 GENE; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; YOUNG ADULT; ADOLESCENT; AMINO ACID SEQUENCE; BARDET-BIEDL SYNDROME; CHROMOSOMAL MAPPING; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDY; GENETIC HETEROGENEITY; GENETICS; GENOTYPING TECHNIQUE; HOMOZYGOTE; MOLECULAR GENETICS; PAKISTAN; PEDIGREE;

ADOLESCENT; AMINO ACID SEQUENCE; BARDET-BIEDL SYNDROME; CHROMOSOME MAPPING; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC HETEROGENEITY; GENOTYPING TECHNIQUES; HOMOZYGOTE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; NEOPLASM PROTEINS; PAKISTAN; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; YOUNG ADULT;

EID: 84958186198     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/s12881-016-0271-9     Document Type: Article

References (36)

1. M'hamdi O, Ouertani I, Chaabouni-Bouhamed H. Update on the genetics of bardet-biedl syndrome. Mol Syndromol. 2014;5(2):51-6.
2. Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest. 2009;119:428-37.
3. 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;36:437-46.
4. Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, et al. 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. Am J Hum Genet. 2001;68:606-16.
5. M'hamdi O, Ouertani I, Maazoul F, Chaabouni H. Prevalence of Bardet-Biedl syndrome in Tunisia. J Community Genet. 2011;2:97-9.
6. Farag TI, Teebi AS. High incidence of Bardet-Biedl syndrome among the Bedouin. Clin Genet. 1989;36:463-4.
7. Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, et al. Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22 year prospective, population-based, cohort study. Am J Med Genet A. 2005;132:352-60.
8. Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, et al. Targeted high-throughput sequencing for molecular diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedel and Alström syndromes. J Med Genet. 2012;49:502-12.
9. Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, et al. Exome sequencing of Bardet- Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet. 2014;51(2):132-6.
10. M'hamdi O, Redin C, Stoetzel C, Ouertani I, Chaabouni M, Maazoul F, et al. Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis. Clin Genet. 2014;85(2):172-7.
11. Aldahmesh MA, Li Y, Alhashem A, Anazi S, Alkuraya H, Hashem M, et al. IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome. Hum Mol Genet. 2014;23(12):3307-15.
12. Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peranen J, Merdes A, et al. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell. 2007;129:1201-13.
13. Forsythe E, Beales PL. Eur J Hum Genet. 2013;21:8-13.
14. Janssen S, Ramaswami G, Davis EE, Hurd T, Airik R, Kasanuki JM, et al. Mutations analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals. Hum Genet. 2011;129:79-90.
15. Smaoui N, Chaabouni M, Sergeev YV, Kallel H, Li S, Mahfoudh N, et al. Screening of the eight BBS genes in Tunisian families: no evidence of triallelism. Invest Ophthalmol Vis Sci. 2006;47:3487-95.
16. Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, et al. Clinical and molecular characterization of Bardet-Biedl syndrome in consanguineous populations: The power of homozygosity mapping. J Med Genet. 2010;47:236-41.
17. Abu Safieh L, Al-Anazi S, Al-Abdi L, Hashem M, Alkuraya H, Alamr M, et al. In search of triallelism in Bardet-Biedl syndrome. Eur J Hum Genet. 2012;20:420-7.
18. Ajmal M, Khan MI, Neveling K, Tayyab A, Jaffar S, Sadeque A, et al. Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedlsyndrome. Mol Vis. 2013;19:644-53.
19. Khan S, Ullah I, Irfanullah, Touseef M, Basit S, Khan MN, et al. Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome. Gene. 2013;515(1):84-8.
20. Agha Z, Iqbal Z, Azam M, Hoefsloot LH, van Bokhoven H, Qamar R. A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family. Gene. 2013;519(1):177-81.
21. Pawlik B, Mir A, Iqbal H, Li Y, Nürnberg G, Becker C, et al. A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostics Strategies. Mol Syndromol. 2010;1(1):27-34.
22. Matise TC, Chen F, Chen W, De La Vega FM, Hansen M, He C, et al. A second-generation combined linkage physical map of the human genome. Genome Res. 2007;17:1783-6.
23. Lindner TH, Hoffmann K. easyLINKAGE: A PERL script for easy and automated two-/multi-point linkage analyses. Bioinformatics. 2005;21:405-7.
24. Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol. 2000;132:365-86.
25. Kent WJ. BLAT - the BLAST-like alignment tool. Genome Res. 2002;12:656-64.
26. Andrade LJ, Andrade R, França CS, Bittencourt AV. Pigmentary retinopathy due to Bardet-Biedl syndrome: case report and literature review. Arq Bras Oftalmol. 2009;72(5):694-6.
27. Hemachandar R. Bardet-Biedl syndrome: A rare cause of end stage renal disease. Int J Appl Basic Med Res. 2015;5(1):70-2.
28. Veleri S, Bishop K, Dalle Nogare DE, English MA, Foskett TJ, Chitnis A, et al. Knockdown of Bardet-Biedl Syndrome Gene BBS9/PTHB1 Leads to Cilia Defects. PLoS One. 2012;7(3), e34389.
29. Vernon EG, Malik K, Reynolds P, Powlesland R, Dallosso AR, Jackson S, et al. The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour. Oncogene. 2003;22(9):1371-80.
30. UniProtKB URL: http://www.uniprot.org.
31. String Database (Known and predicted protein-protein interactions) URL: http://string-db.org/.
32. Human Gene Mutation Database URL: http://www.hgmd.cf.ac.uk/ac/index.php.
33. exome variant server URL: http://exac.broadinstitute.org/.
34. exome aggregation consortium URL: http://evs.gs.washington.edu/EVS/.
35. The Singapore Human Mutation and Polymorphism database URL: http://shmpd.bii.a-star.edu.sg/.
36. Indian Genetic Disease database URL: http://www.igdd.iicb.res.in/IGDD/home.aspx.