Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: Input and lessons

European Journal of Human Genetics

Volumn 24, Issue 5, 2016, Pages 710-716

  Nicolas, Gal ^a,b   Wallon, David ^a,b   Charbonnier, Camille ^a,b   Quenez, Olivier ^a,b   Rousseau, Stéphane ^a   Richard, Anne Claire ^a   Rovelet Lecrux, Anne ^b   Coutant, Sophie ^a,b   Le Guennec, Kilan ^b   Bacq, Delphine ^c   Garnier, Jean Guillaume ^c   Olaso, Robert ^c   Boland, Anne ^c   Meyer, Vincent ^c   Deleuze, Jean Franois ^c   Munter, Hans Markus ^d   Bourque, Guillaume ^d   Auld, Daniel ^d   Montpetit, Alexandre ^d   Lathrop, Mark ^d   Guyant Maréchal, Lucie ^a   Martinaud, Olivier ^a   Pariente, Jérémie ^e   Rollin Sillaire, Adeline ^f   Pasquier, Florence ^f   Le Ber, Isabelle ^g   Sarazin, Marie ^h   Croisile, Bernard ⁱ   Boutoleau Bretonnire, Claire ^j   Thomas Antérion, Catherine ^k   Paquet, Claire ^l   Sauvée, Mathilde ^m   Moreaud, Olivier ^m   Gabelle, Audrey ⁿ   Sellal, Franois ^o   Ceccaldi, Mathieu ^p   Chamard, Ludivine ^q   Blanc, Frederic ^r   Frebourg, Thierry ^a,b   Campion, Dominique ^a,b,s   Hannequin, Didier ^a,b   more..

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b UNIVERSITY OF ROUEN   (France)

^c CENTRE NATIONAL DE GÉNOTYPAGE   (France)

^d MCGILL UNIVERSITY   (Canada)

^e CHU PURPAN   (France)

^f UNIV LILLE   (France)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^h CENTRE HOSPITALIER SAINTE ANNE   (France)

ⁱ Groupe Hospitalier Est   (France)

^j NANTES UNIVERSITY HOSPITAL   (France)

^k UNIVERSITY HOSPITAL OF SAINT ETIENNE   (France)

^l HÔPITAL LARIBOISIÈRE   (France)

^m GRENOBLE UNIVERSITY HOSPITAL   (France)

ⁿ GUI DE CHAULIAC HOSPITAL   (France)

^o UNIVERSITÉ DE STRASBOURG   (France)

^p AIX MARSEILLE UNIVERSITY   (France)

^q UNIVERSITY HOSPITAL OF BESANÇON   (France)

^r UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^s Rouvray Psychiatric Hospital   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ALZHEIMER DISEASE; ARTICLE; EARLY ONSET ALZHEIMER DISEASE; EXOME; FAMILY HISTORY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENETIC VARIABILITY; GENOME; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MULTIGENE FAMILY; ONSET AGE; PRIORITY JOURNAL; WHOLE EXOME SEQUENCING; CASE CONTROL STUDY; GENETICS; MIDDLE AGED; MUTATION; PEDIGREE; PROCEDURES; PROTEIN PROCESSING; STANDARDS;

AMYLOID PRECURSOR PROTEIN; APP PROTEIN, HUMAN; PRESENILIN 1; PRESENILIN 2; PSEN1 PROTEIN, HUMAN; PSEN2 PROTEIN, HUMAN;

ALZHEIMER DISEASE; AMYLOID BETA-PROTEIN PRECURSOR; CASE-CONTROL STUDIES; EXOME; FEMALE; GENETIC TESTING; HUMANS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PRESENILIN-1; PRESENILIN-2; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 84938632291     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.173     Document Type: Article

References (42)

1. Wallon D, Rousseau S, Rovelet-Lecrux A, et al. The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers. J Alzheimers Dis 2012; 30: 847-856
2. Lohmann K, Klein C. Next generation sequencing and the future of genetic diagnosis. Neurotherapeutics 2014; 11: 699-707
3. Della Mina E, Ciccone R, Brustia F, et al. Improving molecular diagnosis in epilepsy by a dedicated high-Throughput sequencing platform. Eur J Hum Genet 2014; 23: 354-362
4. Rehm HL. Disease-Targeted sequencing: a cornerstone in the clinic. Nat Rev Genet 2013; 14: 295-300
5. Beck J, Pittman A, Adamson G, et al. Validation of next-generation sequencing technologies in genetic diagnosis of dementia. Neurobiol Aging 2014; 35: 261-265
6. McKhann GM, Knopman DS, Chertkow H, et al. The diagnosis of dementia due to Alzheimer's disease: recommendations from the National Institute on Aging-Alzheimer's Association workgroups on diagnostic guidelines for Alzheimer's disease. Alzheimers Dement 2011; 7: 263-269
7. Duits FH, Prins ND, Lemstra AW, et al. Diagnostic impact of CSF biomarkers for Alzheimer's disease in a tertiary memory clinic. Alzheimers Dement 2014; 11: 523-532
8. Rovelet-Lecrux A, Hannequin D, Raux G, et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2006; 38: 24-26
9. Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 2010; 26: 589-595
10. McKenna A, Hanna M, Banks E, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010; 20: 1297-1303
11. Guerreiro RJ, Baquero M, Blesa R, et al. Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. Neurobiol Aging 2010; 31: 725-731
12. Rademakers R, Neumann M, Mackenzie IR. Advances in understanding the molecular basis of frontotemporal dementia. Nat Rev Neurol 2012; 8: 423-434
13. Nygaard HB, Lippa CF, Mehdi D, Baehring JM. A novel presenilin 1 mutation in earlyonset Alzheimer's disease with prominent frontal features. Am J Alzheimers Dis Other Dement 2014; 29: 433-435
14. Walker ES, Martinez M, Brunkan AL, Goate A. Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios. J Neurochem 2005; 92: 294-301
15. Sleegers K, Roks G, Theuns J, et al. Familial clustering and genetic risk for dementia in a genetically isolated Dutch population. Brain 2004; 127: 1641-1649
16. Stenson PD, Mort M, Ball EV, Shaw K, Phillips A, Cooper DN. The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 2014; 133: 1-9
17. Genome of the Netherlands Consortium: Whole-genome sequence variation, population structure and demographic history of the Dutch population. Nat Genet 2014; 46: 818-825
18. Dumanchin C, Brice A, Campion D, et al. De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group. J Med Genet 1998; 35: 672-673
19. Portet F, Dauvilliers Y, Campion D, et al. Very early onset AD with a De novo mutation in the presenilin 1 gene (Met 233 Leu). Neurology 2003; 61: 1136-1137
20. Genin E, Hannequin D, Wallon D, et al. APOE and Alzheimer disease: a major gene with semi-dominant inheritance. Mol Psychiatry 2011; 16: 903-907
21. McNaughton D, Knight W, Guerreiro R, et al. Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series. Neurobiol Aging 2012; 33: 426.e13-426.e21
22. Llado A, Grau-Rivera O, Sanchez-Valle R, et al. Large APP locus duplication in a sporadic case of cerebral haemorrhage. Neurogenetics 2014; 15: 145-149
23. Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med 2013; 368: 117-127
24. Jonsson T, Stefansson H, Steinberg S, et al. Variant of TREM2 associated with the risk of Alzheimer's disease. N Engl J Med 2013; 368: 107-116
25. Pottier C, Wallon D, Rousseau S, et al. TREM2 R47H variant as a risk factor for earlyonset Alzheimer's disease. J Alzheimers Dis 2013; 35: 45-49
26. Gilissen C, Hoischen A, Brunner HG, Veltman JA. Unlocking Mendelian disease using exome sequencing. Genome Biol 2011; 12: 228
27. De Ligt J, Willemsen MH, Van Bon BW, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012; 367: 1921-1929
28. Beck J, Poulter M, Hensman D, et al. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet 2013; 92: 345-353
29. Kohli MA, John-Williams K, Rajbhandary R, et al. Repeat expansions in the C9ORF72 gene contribute to Alzheimer's disease in Caucasians. Neurobiol Aging 2013; 34: 1519.e5-1519.e12
30. Galimberti D, Arosio B, Fenoglio C, et al. Incomplete penetrance of the C9ORF72 hexanucleotide repeat expansions: frequency in a cohort of geriatric non-demented subjects. J Alzheimers Dis 2014; 39: 19-22
31. Perry DC, Lehmann M, Yokoyama JS, et al. Progranulin mutations as risk factors for Alzheimer disease. JAMA Neurol 2013; 70: 774-778
32. Guerreiro RJ, Lohmann E, Kinsella E, et al. Exome sequencing reveals an unexpected genetic cause of disease: NOTCH3 mutation in a Turkish family with Alzheimer's disease. Neurobiol Aging 2012; 33: 1008, e1017-1023
33. Jayadev S, Nochlin D, Poorkaj P, et al. Familial prion disease with Alzheimer diseaselike tau pathology and clinical phenotype. Ann Neurol 2011; 69: 712-720
34. Guerreiro R, Bras J, Wojtas A, Rademakers R, Hardy J, Graff-Radford N. A nonsense mutation in PRNP associated with clinical Alzheimer's disease. Neurobiol Aging 2014; 35: 2656, e2613-2656
35. McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM. Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease. Neurology 1984; 34: 939-944
36. Petersen RC, Aisen PS, Beckett LA, et al. Alzheimer's Disease Neuroimaging Initiative (ADNI): clinical characterization. Neurology 2010; 74: 201-209
37. Rinne JO, Brooks DJ, Rossor MN, et al. 11C-PiB PET assessment of change in fibrillar amyloid-beta load in patients with Alzheimer's disease treated with bapineuzumab: a phase 2, double-blind, placebo-controlled, ascending-dose study. Lancet Neurol 2010; 9: 363-372
38. Schoonenboom NS, Reesink FE, Verwey NA, et al. Cerebrospinal fluid markers for differential dementia diagnosis in a large memory clinic cohort. Neurology 2012; 78: 47-54
39. Lim A, Tsuang D, Kukull W, et al. Clinico-neuropathological correlation of Alzheimer's disease in a community-based case series. J Am Geriatr Soc 1999; 47: 564-569
40. Andreasson U, Lautner R, Schott JM, et al. CSF biomarkers for Alzheimer's pathology and the effect size of APOE varepsilon4. Mol Psychiatry 2014; 19: 148-149
41. Dubois B, Feldman HH, Jacova C, et al. Advancing research diagnostic criteria for Alzheimer's disease: the IWG-2 criteria. Lancet Neurol 2014; 13: 614-629
42. Mouton-Liger F, Wallon D, Troussiere AC, et al. Impact of cerebro-spinal fluid biomarkers of Alzheimer's disease in clinical practice: a multicentric study. J Neurol 2014; 261: 144-151