Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar

Clinical Genetics

Volumn 86, Issue 2, 2014, Pages 134-141

  Fahiminiya, S ^a   Almuriekhi, M ^b   Nawaz, Z ^b   Staffa, A ^a   Lepage, P ^a   Ali, R ^b   Hashim, L ^b   Schwartzentruber, J ^a   Abu Khadija, K ^b   Zaineddin, S ^b   Gamal, H ^b   Majewski, J ^a   Ben Omran, T ^b  

^a MCGILL UNIVERSITY   (Canada)

^b HAMAD MEDICAL CORPORATION   (Qatar)

Author keywords

Consanguinity; Qatari population; Recessive disorders; Whole exome sequencing

Indexed keywords

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; DIAGNOSTIC PROCEDURE; DNA SPLICING; EXON; FAMILY; FEMALE; GENE DELETION; GENETIC DISORDER; GENETIC SCREENING; HOMOZYGOSITY; HUMAN; HURLER SYNDROME; HYPOPHOSPHATEMIC RICKETS; MALE; MOLECULAR DIAGNOSIS; MUCOPOLYSACCHARIDOSIS; NONSENSE MUTATION; NOONAN SYNDROME; PRIORITY JOURNAL; QATAR; SCREENING; STORAGE DISEASE; WHOLE EXOME SEQUENCING; CONSANGUINITY; DISEASES; DNA SEQUENCE; EXOME; GENETIC PREDISPOSITION; GENETICS; PARENT; PEDIGREE;

CONSANGUINITY; DISEASE; EXOME; FAMILY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; PARENTS; PEDIGREE; QATAR; SEQUENCE ANALYSIS, DNA;

EID: 84904700239     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12280     Document Type: Article

References (33)

1. Riordan JR, Rommens JM, Kerem B et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989: 245: 1066-1073.
2. Gusella JF, Wexler NS, Conneally PM et al. A polymorphic DNA marker genetically linked to Huntington's disease. Nature 1983: 306: 234-238.
3. Rabbani B, Mahdieh N, Hosomichi K, Nakaoka H, Inoue I. Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders. J Hum Genet 2012: 57: 621-632.
4. Majewski J, Schwartzentruber J, Lalonde E, Montpetit A, Jabado N. What can exome sequencing do for you? J Med Genet 2011: 48: 580-589.
5. Ng SB, Buckingham KJ, Lee C et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat Genet 2010: 42: 30-35.
6. Kim JC, Lee NC, Hwu PW et al. Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B(12) metabolism: diagnosis and novel mutation revealed by exome sequencing. Mol Genet Metab 2012: 107: 664-668.
7. McDonald-McGinn DM, Fahiminiya S, Revil T et al. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. J Med Genet 2012: 50(2): 80-90.
8. Gupta IR, Baldwin C, Auguste D et al. ARHGDIA: a novel gene implicated in nephrotic syndrome. J Med Genet 2013: 50(5): 330-338.
9. Fahiminiya S, Majewski J, Mort J, Moffatt P, Glorieux FH, Rauch F. Mutations in WNT1 are a cause of osteogenesis imperfecta. J Med Genet 2013: 50(5): 345-348.
10. Bener A, Hussain R. Consanguineous unions and child health in the State of Qatar. Paediatr Perinat Epidemiol 2006: 20: 372-378.
11. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009: 25: 1754-1760.
12. Li H, Handsaker B, Wysoker A et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 2009: 25: 2078-2079.
13. Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 2010: 38: e164.
14. Robinson JT, Thorvaldsdottir H, Winckler W et al. Integrative genomics viewer. Nat Biotechnol 2011: 29: 24-26.
15. Stenson PD, Mort M, Ball EV, Howells K, Phillips AD, Thomas NS, Cooper DN. The Human Gene Mutation Database: 2008 update. Genome Med 2009: 1: 13.
16. Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009: 4: 1073-1082.
17. Adzhubei IA, Schmidt S, Peshkin L et al. A method and server for predicting damaging missense mutations. Nat Methods 2010: 7: 248-249.
18. Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010: 7: 575-576.
19. Paudel HK. The regulatory Ser262 of microtubule-associated protein tau is phosphorylated by phosphorylase kinase. J Biol Chem 1997: 272: 1777-1785.
20. van Beurden EA, de Graaf M, Wendel U, Gitzelmann R, Berger R, Van den Berg IE. Autosomal recessive liver phosphorylase kinase deficiency caused by a novel splice-site mutation in the gene encoding the liver gamma subunit (PHKG2). Biochem Biophys Res Commun 1997: 236: 544-548.
21. Brzezicha B, Schmidt M, Makalowska I, Jarmolowski A, Pienkowska J, Szweykowska-Kulinska Z. Identification of human tRNA:m5C methyltransferase catalysing intron-dependent m5C formation in the first position of the anticodon of the pre-tRNA Leu (CAA). Nucleic Acids Res 2006: 34: 6034-6043.
22. Squires JE, Patel HR, Nousch M et al. Widespread occurrence of 5-methylcytosine in human coding and non-coding RNA. Nucleic Acids Res 2012: 40: 5023-5033.
23. Abbasi-Moheb L, Mertel S, Gonsior M et al. Mutations in NSUN2 cause autosomal-recessive intellectual disability. Am J Hum Genet 2012: 90: 847-855.
24. Khan MA, Rafiq MA, Noor A et al. Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability. Am J Hum Genet 2012: 90: 856-863.
25. Martinez FJ, Lee JH, Lee JE et al. Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome. J Med Genet 2012: 49: 380-385.
26. Blanco S, Kurowski A, Nichols J, Watt FM, Benitah SA, Frye M. The RNA-methyltransferase Misu (NSun2) poises epidermal stem cells to differentiate. PLoS Genet 2011: 7: e1002403.
27. Neufeld EF. Lysosomal storage diseases. Annu Rev Biochem 1991: 60: 257-280.
28. Scott HS, Litjens T, Nelson PV, Brooks DA, Hopwood JJ, Morris CP. alpha-L-iduronidase mutations (Q70X and P533R) associate with a severe Hurler phenotype. Hum Mutat 1992: 1: 333-339.
29. Gatti R, DiNatale P, Villani GR et al. Mutations among Italian mucopolysaccharidosis type I patients. J Inherit Metab Dis 1997: 20: 803-806.
30. Holm IA, Nelson AE, Robinson BG et al. Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. J Clin Endocrinol Metab 2001: 86: 3889-3899.
31. Gaucher C, Walrant-Debray O, Nguyen TM, Esterle L, Garabedian M, Jehan F. PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. Hum Genet 2009: 125: 401-411.
32. Beck-Nielsen SS, Brixen K, Gram J, Brusgaard K. Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets. J Hum Genet 2012: 57: 453-458.
33. Durmaz E, Zou M, Al-Rijjal RA et al. Novel and de novo PHEX mutations in patients with hypophosphatemic rickets. Bone 2013: 52: 286-291.