First steps in exploring prospective exome sequencing of consanguineous couples

European Journal of Medical Genetics

Volumn 57, Issue 11-12, 2014, Pages 613-616

  Teeuw, Marieke ^a   Waisfisz, Quinten ^a   Zwijnenburg, Petra J G ^a   Sistermans, Erik A ^a   Weiss, Marjan M ^a   Henneman, Lidewij ^a   ten Kate, Leo P ^a   Cornel, Martina C ^a   Meijers Heijboer, Hanne ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Autosomal recessive disorders; Consanguinity; Exome sequencing; Preconception carrier screening

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BETA THALASSEMIA; CHILD; CLINICAL ARTICLE; CONSANGUINITY; CYSTIC FIBROSIS; EXOME; EXOME SEQUENCING; EXON; GENE MUTATION; GENETIC RISK; GENOTYPE; HUMAN; LAMELLAR ICHTHYOSIS; PROPIONIC ACIDEMIA; RETINITIS PIGMENTOSA; SPINAL MUSCULAR ATROPHY; DNA SEQUENCE; FEMALE; GENETIC DISORDER; GENETICS; MALE; MUTATION; PROSPECTIVE STUDY;

CONSANGUINITY; EXOME; FEMALE; GENETIC DISEASES, INBORN; HUMANS; MALE; MUTATION; PROSPECTIVE STUDIES; SEQUENCE ANALYSIS, DNA;

EID: 84918515851     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2014.09.003     Document Type: Article

References (19)

1. Alkuraya F.S. Impact of new genomic tools on the practice of clinical genetics in consanguineous populations: the Saudi experience. Clin Genet 2013, 84:203-208.
2. Bamshad M.J., Ng S.B., Bigham A.W., Tabor H.K., Emond M.J., Nickerson D.A., et al. Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet 2011, 12:745-755.
3. Bell C.J., Dinwiddie D.L., Miller N.A., Hateley S.L., Ganusova E.E., Mudge J., et al. Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 2011, 3:65ra4.
4. Bittles A.H., Black M.L. Evolution in health and medicine Sackler colloquium: consanguinity, human evolution, and complex diseases. Proc Natl Acad Sci U S A 2010, 107(Suppl 1):1779-1786.
5. Bredenoord A.L., De Vries M.C., Van Delden J.J. Next-generation sequencing: does the next generation still have a right to an open future?. Nat Rev Genet 2013, 14:306.
6. Dixon-Salazar T.J., Silhavy J.L., Udpa N., Schroth J., Bielas S., Schaffer A.E., et al. Exome sequencing can improve diagnosis and alter patient management. Sci Transl Med 2012, 4:138ra78.
7. Fromer M., Moran J.L., Chambert K., Banks E., Bergen S.E., Ruderfer D.M., et al. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Am J Hum Genet 2012, 91:597-607.
8. Gilissen C., Hoischen A., Brunner H.G., Veltman J.A. Disease gene identification strategies for exome sequencing. Eur J Hum Genet 2012, 20:490-497.
9. Hamamy H., Antonarakis S.E., Cavalli-Sforza L.L., Temtamy S., Romeo G., Kate L.P., et al. Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report. Genet Med 2011, 13:841-847.
10. Makrythanasis P., Hamamy H., Antonarakis S.E., Mauron A., Hurst S.A. Analysis of the Born in Bradford birth cohort. Lancet 2014, 383:123.
11. Modell B., Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ 2008, 86:480-487.
12. Muralidharan K., Wilson R.B., Ogino S., Nagan N., Curtis C., Schrijver I. Population carrier screening for spinal muscular atrophy a position statement of the association for molecular pathology. JMol Diagn 2011, 13:3-6.
13. Rigter T., Henneman L., Kristoffersson U., Hall A., Yntema H.G., Borry P., et al. Reflecting on earlier experiences with unsolicited findings: points to consider for next-generation sequencing and informed consent in diagnostics. Hum Mutat 2013, 34:1322-1328.
14. Sheridan E., Wright J., Corry P., Oddie S., Small N., Parslow R.C. Analysis of the Born in Bradford birth cohort-authors' reply. Lancet 2014, 383:123.
15. Teeuw M.E., Henneman L., Bochdanovits Z., Heutink P., Kuik D.J., Cornel M.C., et al. Do consanguineous parents of a child affected by an autosomal recessive disease have more DNA identical-by-descent than similarly-related parents with healthy offspring? Design of a case-control study. BMC Med Genet 2010, 11:113.
16. Teeuw M.E., Loukili G., Bartels E.A., Ten Kate L.P., Cornel M.C., Henneman L. Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in western society. Eur J Hum Genet 2014, 22:452-457.
17. Ten Kate L.P., Scheffer H., Cornel M.C., Van Lookeren Campagne J.G. Consanguinity sans reproche. Hum Genet 1991, 86:295-296.
18. Ten Kate L.P., Teeuw M., Henneman L., Cornel M. Autosomal recessive disease in children of consanguineous parents: inferences from the proportion of compound heterozygotes. JCommunity Genet 2010, 1:37-40.
19. Wolf N.I., Salomons G.S., Rodenburg R.J., Pouwels P.J., Schieving J.H., Derks T.G., et al. Mutations in RARS cause hypomyelination. Ann Neurol 2014, (Epub ahead of print). 10.1002/ana.24167.