Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.
MECP2
NGS
RNAseq
Rett syndrome
Rett-like
WES
WGS
genetics
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
26 Sep 2021
26 Sep 2021
Historique:
received:
30
07
2021
revised:
17
09
2021
accepted:
22
09
2021
entrez:
13
10
2021
pubmed:
14
10
2021
medline:
27
10
2021
Statut:
epublish
Résumé
Rett syndrome (RTT) is a severe neurodevelopmental disorder that constitutes the second most common cause of intellectual disability in females worldwide. In the past few years, the advancements in genetic diagnosis brought by next generation sequencing (NGS), have made it possible to identify more than 90 causative genes for RTT and significantly overlapping phenotypes (RTT spectrum disorders). Therefore, the clinical entity known as RTT is evolving towards a spectrum of overlapping phenotypes with great genetic heterogeneity. Hence, simultaneous multiple gene testing and thorough phenotypic characterization are mandatory to achieve a fast and accurate genetic diagnosis. In this review, we revise the evolution of the diagnostic process of RTT spectrum disorders in the past decades, and we discuss the effectiveness of state-of-the-art genetic testing options, such as clinical exome sequencing and whole exome sequencing. Moreover, we introduce recent technological advancements that will very soon contribute to the increase in diagnostic yield in patients with RTT spectrum disorders. Techniques such as whole genome sequencing, integration of data from several "omics", and mosaicism assessment will provide the tools for the detection and interpretation of genomic variants that will not only increase the diagnostic yield but also widen knowledge about the pathophysiology of these disorders.
Identifiants
pubmed: 34638716
pii: ijms221910375
doi: 10.3390/ijms221910375
pmc: PMC8508637
pii:
doi:
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Instituto de Salud Carlos III
ID : PI15/01159
Organisme : Instituto de Salud Carlos III
ID : PI20/00389
Organisme : FPU (Formación del Profesorado Universitario) doctoral grant from the Spanish Ministry of Science, Innovation and Universities
ID : FPU18/02152
Organisme : Muévete por los que no Pueden
ID : PCP/00282
Références
Hum Mutat. 2017 Aug;38(8):922-931
pubmed: 28544139
Hum Mutat. 2019 Dec;40(12):2184-2196
pubmed: 31379106
Hum Mutat. 2013 Oct;34(10):1439-48
pubmed: 23893877
Sci Transl Med. 2014 Dec 3;6(265):265ra168
pubmed: 25473036
Clin Genet. 2015 Sep;88(3):288-92
pubmed: 25156961
Genet Med. 2019 Nov;21(11):2413-2421
pubmed: 31182824
Genet Med. 2015 Jul;17(7):578-86
pubmed: 25356970
J Inherit Metab Dis. 2018 May;41(3):297-307
pubmed: 29445992
Proc Natl Acad Sci U S A. 2009 Mar 24;106(12):4882-7
pubmed: 19225110
Ann Neurol. 2010 Dec;68(6):944-50
pubmed: 21154482
J Neurodev Disord. 2014;6(1):20
pubmed: 25071871
Mol Cell Biol. 2001 Mar;21(6):1962-72
pubmed: 11238932
Trends Genet. 2008 Mar;24(3):133-41
pubmed: 18262675
Hum Mutat. 2002 Oct;20(4):323-4
pubmed: 12325033
Clin Genet. 2021 Mar;99(3):462-474
pubmed: 33368194
BMC Med Genomics. 2019 Jan 21;12(1):11
pubmed: 30665423
Brain Dev. 2011 Aug;33(7):608-11
pubmed: 20970936
Genet Med. 2018 Oct;20(10):1216-1223
pubmed: 29323667
Clin Genet. 2017 Mar;91(3):431-440
pubmed: 27062609
Genome Res. 2014 Apr;24(4):673-87
pubmed: 24356988
Eur J Hum Genet. 2007 Aug;15(8):902-4
pubmed: 17440498
Nucleic Acids Res. 2015 Jan;43(Database issue):D789-98
pubmed: 25428349
BMC Med Genet. 2018 Oct 30;19(1):191
pubmed: 30376817
Neurogenetics. 2018 Jan;19(1):41-47
pubmed: 29322350
Pediatr Res. 2010 May;67(5):551-6
pubmed: 20098342
BMC Genomics. 2015;16 Suppl 8:S3
pubmed: 26110593
Am J Med Genet C Semin Med Genet. 2010 Aug 15;154C(3):329-34
pubmed: 20803655
Nat Rev Genet. 2018 May;19(5):299-310
pubmed: 29479082
Sci Rep. 2017 Sep 25;7(1):12288
pubmed: 28947817
Brain Dev. 2020 Aug;42(7):484-495
pubmed: 32336485
Clin Chem. 2016 Apr;62(4):647-54
pubmed: 26847218
Hum Mol Genet. 2005 Jul 15;14(14):1935-46
pubmed: 15917271
Gene. 2019 Jun 5;700:168-175
pubmed: 30904718
Epilepsia. 2019 Jun;60(6):e63-e66
pubmed: 31077350
Am J Hum Genet. 2008 Jul;83(1):89-93
pubmed: 18571142
Cell. 2019 Mar 21;177(1):70-84
pubmed: 30901550
J Med Genet. 2019 Jun;56(6):396-407
pubmed: 30842224
Genet Med. 2016 Jul;18(7):696-704
pubmed: 26633542
Am J Hum Genet. 2019 Mar 7;104(3):466-483
pubmed: 30827497
Nat Rev Genet. 2018 May;19(5):253-268
pubmed: 29398702
J Med Genet. 2005 Jan;42(1):1-7
pubmed: 15635068
Science. 2020 Sep 11;369(6509):
pubmed: 32913073
Brain Dev. 1992 Mar;14(2):98-101
pubmed: 1621933
Nat Rev Genet. 2013 May;14(5):307-20
pubmed: 23594909
Nature. 2014 Jul 17;511(7509):344-7
pubmed: 24896178
Am J Hum Genet. 2013 Aug 8;93(2):249-63
pubmed: 23849776
Proc Jpn Acad Ser B Phys Biol Sci. 2017;93(9):657-676
pubmed: 29129848
Ann Neurol. 2018 Feb;83(2):437-439
pubmed: 29369404
Neurobiol Dis. 2010 Jun;38(3):414-24
pubmed: 20211261
Int J Mol Sci. 2019 Aug 26;20(17):
pubmed: 31454984
J Med Genet. 2001 Jul;38(7):435-42
pubmed: 11432961
Nat Genet. 1999 Oct;23(2):185-8
pubmed: 10508514
J Med Genet. 2011 Sep;48(9):580-9
pubmed: 21730106
Am J Hum Genet. 2015 Jul 2;97(1):67-74
pubmed: 26054435
Sci Signal. 2019 Jun 18;12(586):
pubmed: 31213567
Bioinformatics. 2014 Oct 15;30(20):2852-9
pubmed: 24966365
Nature. 2017 Feb 23;542(7642):433-438
pubmed: 28135719
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
PLoS One. 2014 Mar 03;9(3):e90645
pubmed: 24594659
J Mol Diagn. 2003 May;5(2):121-6
pubmed: 12707377
Genet Med. 2021 Jul 1;:
pubmed: 34211152
Sci Transl Med. 2017 Apr 19;9(386):
pubmed: 28424332
Neurosci Biobehav Rev. 2019 Mar;98:320-332
pubmed: 30832924
Ann Neurol. 2001 Nov;50(5):692
pubmed: 11706982
Ann Neurol. 2010 Dec;68(6):951-5
pubmed: 21104896
Ment Retard Dev Disabil Res Rev. 2002;8(2):61-5
pubmed: 12112728
Epilepsia. 2021 Jan;62(1):143-151
pubmed: 33200402
J Comp Neurol. 2007 Apr 1;501(4):526-42
pubmed: 17278130
JAMA. 2014 Nov 12;312(18):1880-7
pubmed: 25326637
Am J Med Genet B Neuropsychiatr Genet. 2012 Mar;159B(2):210-6
pubmed: 22213695
J Med Genet. 2016 Mar;53(3):190-9
pubmed: 26740508
Clin Genet. 2005 Mar;67(3):258-60
pubmed: 15691364
Am J Hum Genet. 2004 Dec;75(6):1079-93
pubmed: 15492925
Int J Mol Sci. 2019 Aug 12;20(16):
pubmed: 31409060
Hum Genet. 2020 Oct;139(10):1197-1207
pubmed: 32596782
Front Genet. 2012 Sep 11;3:181
pubmed: 22973303
Biomolecules. 2021 Jun 30;11(7):
pubmed: 34209228
Nature. 2015 Mar 12;519(7542):223-8
pubmed: 25533962
Nat Commun. 2019 Jul 19;10(1):3240
pubmed: 31324872
Genet Med. 2016 Apr;18(4):378-85
pubmed: 26181491
Clin Genet. 2006 Oct;70(4):336-8
pubmed: 16965328
J Med Genet. 2001 Dec;38(12):867-71
pubmed: 11768391
Nat Rev Neurol. 2017 Jan;13(1):37-51
pubmed: 27934853
BMC Genomics. 2018 Jan 30;19(1):106
pubmed: 29378520
Genet Med. 2019 Jun;21(6):1330-1338
pubmed: 30405208
Eur J Hum Genet. 2000 May;8(5):325-30
pubmed: 10854091
J Med Genet. 2010 Jan;47(1):49-53
pubmed: 19578037
PLoS Genet. 2016 Jun 06;12(6):e1006096
pubmed: 27272900
Clin Genet. 2018 Mar;93(3):567-576
pubmed: 28708303
BMC Genet. 2017 Feb 14;18(1):14
pubmed: 28193154
J Child Neurol. 2005 Sep;20(9):732-6
pubmed: 16225827
Genet Med. 2018 Nov;20(11):1328-1333
pubmed: 29565419
Ann Neurol. 2017 Sep;82(3):466-478
pubmed: 28856709
Cell Rep. 2017 Dec 26;21(13):3754-3766
pubmed: 29281825
Epigenetics Chromatin. 2019 Oct 10;12(1):63
pubmed: 31601272
Hum Genet. 2016 Dec;135(12):1343-1354
pubmed: 27541642
Genet Med. 2017 Jan;19(1):13-19
pubmed: 27171548
Nat Rev Neurosci. 2018 Jun;19(6):368-382
pubmed: 29740174
Neurosci Biobehav Rev. 2019 Dec;107:115-135
pubmed: 31108160
Lancet. 2000 Sep 2;356(9232):830-2
pubmed: 11022934
Eur J Paediatr Neurol. 2019 Jul;23(4):609-620
pubmed: 31105003
Eur J Hum Genet. 2002 Jan;10(1):77-81
pubmed: 11896459
Am J Med Genet A. 2008 Aug 1;146A(15):1994-8
pubmed: 18627055
Nat Rev Genet. 2015 May;16(5):261-75
pubmed: 25732612
Clin Genet. 2018 Dec;94(6):495-501
pubmed: 30125339
Am J Hum Genet. 2017 Sep 7;101(3):315-325
pubmed: 28886340
Nature. 2016 Sep 14;537(7620):347-55
pubmed: 27629641
Nat Neurosci. 2018 Nov;21(11):1504-1514
pubmed: 30349109
Neuromolecular Med. 2014 Jun;16(2):231-64
pubmed: 24615633
Proc Natl Acad Sci U S A. 2015 Apr 28;112(17):5473-8
pubmed: 25827230
Clin Genet. 2019 Feb;95(2):221-230
pubmed: 29023665
N Engl J Med. 2013 Oct 17;369(16):1502-11
pubmed: 24088041
Transl Sci Rare Dis. 2018 Apr 13;3(1):49-53
pubmed: 29682453
Am J Hum Genet. 2018 Jun 7;102(6):1062-1077
pubmed: 29805046
World J Biol Psychiatry. 2020 Dec;21(10):712-725
pubmed: 30907210
Curr Opin Psychiatry. 2018 Mar;31(2):103-108
pubmed: 29206688
Am J Med Genet A. 2015 Sep;167A(9):2017-25
pubmed: 25914188
Nucleic Acids Res. 2004 Mar 19;32(5):1818-23
pubmed: 15034150
Eur J Hum Genet. 2004 Jan;12(1):24-8
pubmed: 14560307
Genet Med. 2018 Apr;20(4):435-443
pubmed: 28771251
Am J Hum Genet. 1999 Dec;65(6):1520-9
pubmed: 10577905
Nat Genet. 2004 Apr;36(4):339-41
pubmed: 15034579
Int J Mol Sci. 2019 Oct 15;20(20):
pubmed: 31618813
J Inherit Metab Dis. 2020 Jan;43(1):25-35
pubmed: 31119744
Bioinformatics. 2014 Jun 15;30(12):1707-13
pubmed: 24558117
Nat Commun. 2017 Jun 12;8:15824
pubmed: 28604674
Genet Med. 2018 Dec;20(12):1564-1574
pubmed: 29595814
J Inherit Metab Dis. 2018 May;41(3):525-532
pubmed: 29372369