Genetic diagnosis in consanguineous families with kidney disease by homozygosity mapping coupled with whole-exome sequencing

American Journal of Kidney Diseases

Volumn 58, Issue 2, 2011, Pages 186-195

  Al Romaih, Khaldoun I ^a,b,c   Genovese, Giulio ^b,c   Al Mojalli, Hamad ^a   Al Othman, Saleh ^a   Al Manea, Hadeel ^a   Al Suleiman, Mohammed ^d   Al Jondubi, Mohammed ^d   Atallah, Nourah ^a   Al Rodayyan, Maha ^a   Weins, Astrid ^e   Pollak, Martin R ^b,c   Adra, Chaker N ^a,c,e  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d Department of Nephrology   (Saudi Arabia)

^e BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

Exome sequencing; genetics; genotyping; kidney disease; NPHP1

Indexed keywords

CREATININE; GENOMIC DNA; MEMBRANE PROTEIN; NEPHROCYSTIN 1; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CHROMOSOME 2Q; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CREATININE BLOOD LEVEL; DNA SEQUENCE; EXOME; EXON; FAMILIAL DISEASE; FEMALE; FOCAL GLOMERULOSCLEROSIS; GENE DELETION; GENE MAPPING; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; HOMOZYGOSITY; HUMAN; KIDNEY DISEASE; KIDNEY FAILURE; MALE; NEPHRONOPHTHISIS; POLYMERASE CHAIN REACTION; SAUDI ARABIA; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; ADULT; CHILD; CONSANGUINITY; FEMALE; HOMOZYGOTE; HUMANS; KIDNEY DISEASES; MALE; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 79960837470     PISSN: 02726386     EISSN: 15236838     Source Type: Journal    
DOI: 10.1053/j.ajkd.2011.01.025     Document Type: Article

References (18)

1. M. Choi, U.I. Scholl, and W. Ji Genetic diagnosis by whole exome capture and massively parallel DNA sequencing Proc Natl Acad Sci U S A 106 45 2009 19096 19101
2. S.B. Ng, K.J. Buckingham, and C. Lee Exome sequencing identifies the cause of a mendelian disorder Nat Genet 42 1 2010 30 35
3. E. Denamur, N. Bocquet, and B. Mougenot Mother-to-child transmitted WT1 splice-site mutation is responsible for distinct glomerular diseases J Am Soc Nephrol 10 10 1999 2219 2223 (Pubitemid 29453501)
4. N. Boute, O. Gribouval, and S. Roselli NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome Nat Genet 24 4 2000 349 354 (Pubitemid 30187431)
5. J.M. Kaplan, S.H. Kim, and K.N. North Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis Nat Genet 24 3 2000 251 256 (Pubitemid 30132192)
6. M.P. Winn, P.J. Conlon, and K.L. Lynn A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis Science 308 5729 2005 1801 1804 (Pubitemid 40848011)
7. M.M. Lowik, P.J. Groenen, and I. Pronk Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation Kidney Int 72 10 2007 1198 1203 (Pubitemid 350059656)
8. A. Philippe, F. Nevo, and E.L. Esquivel Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome J Am Soc Nephrol 19 10 2008 1871 1878
9. E.J. Brown, J.S. Schlondorff, and D.J. Becker Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis Nat Genet. 42 1 2010 72 76
10. M.R. Pollak The genetic basis of FSGS and steroid-resistant nephrosis Semin Nephrol 23 2 2003 141 146 (Pubitemid 36397096)
11. M.R. Pollak Inherited podocytopathies: FSGS and nephrotic syndrome from a genetic viewpoint J Am Soc Nephrol 13 12 2002 3016 3023 (Pubitemid 35386922)
12. K. Mistry, J.H. Ireland, R.C. Ng, J.M. Henderson, and M.R. Pollak Novel mutations in NPHP4 in a consanguineous family with histological findings of focal segmental glomerulosclerosis Am J Kidney Dis 50 5 2007 855 864 (Pubitemid 47588562)
13. V. D'Agati Pathologic classification of focal segmental glomerulosclerosis Semin Nephrol 23 2 2003 117 134 (Pubitemid 36397094)
14. J.M. Henderson, M.P. Alexander, and M.R. Pollak Patients with ACTN4 mutations demonstrate distinctive features of glomerular injury J Am Soc Nephrol 20 5 2009 961 968
15. F. Hildebrandt, M. Attanasio, and E. Otto Nephronophthisis: disease mechanisms of a ciliopathy J Am Soc Nephrol 20 1 2009 23 35
16. E.A. Otto, T.W. Hurd, and R. Airik Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy Nat Genet. 42 1 2010 840 850
17. S. Saunier, J. Calado, and F. Benessy Characterization of the NPHP1 locus: mutational mechanism involved in deletions in familial juvenile nephronophthisis Am J Hum Genet 66 3 2000 778 789 (Pubitemid 30470483)
18. M. Konrad, S. Saunier, and L. Heidet Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis Hum Mol Genet 5 3 1996 367 371 (Pubitemid 26069581)