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Table 1 Examples from the literature of human brain disorders and genes implicated in diseases associated with de novo mutations

From: De novo mutations in neurological and psychiatric disorders: effects, diagnosis and prevention

Disorders OMIM Implicated gene(s) References
Alexander disease #203450 GFAP Brenner et al., 2001 [73]
Amyotrophic lateral sclerosis #105400 FUS, TDP-43, SOD1 DeJesus-Hernandez et al., 2010 [74]
Ataxia #208920 CACNA1A, TBP Koide et al., 1999 [75]
Autism spectrum disorders #209850 NLGN3, NLGN4, NRXN1, SHANK3, etc. Jamain et al., 2003 [67]; Durand et al., 2007[39]
CADASIL #125310 NOTCH3 Joutel et al., 2000 [76]
Cerebral cavernous malformations #116860 KRIT1, CCM2, CMM3, PDCD10 Lucas et al., 2001 [77]; Bergametti et al., 2005 [78]
Charcot-Marie-Tooth disease #606482 >10 genes Boerkoel et al., 2002 [79]
Dejerine-Sottas #145900 PMP22 Valentijn et al., 1995 [80]
Dravet syndrome #607208 SCN1A Claes et al., 2001 [81]
Early-onset dementia #600274 PRNP, APP Cannella et al., 2007 [82]; McNaughton et al., 2012 [83]
Focal epilepsy #300088 SCN1A Okumura et al., 2007 [84]
Hemiplegic migraine #141500 ATPA2, CACNA1A Riant et al., 2010 [85]
Intellectual disability #612621 SYNGAP1 Hamdan et al., 2009 [4]
Neurofibromatosis type II #162200 NF1 Viskochil et al., 1990 [86]
Neurofibromatosis type II #101000 NF2 Rouleau et al., 1993 [53]
Rapid-onset dystonia Parkinsonism #128235 ATP1A3 Post et al., 2009 [87]
Rett syndrome #312750 MECP2, CDKL5 and netrin G1 Amir et al., 1999 [44]; Weaving et al., 2004 [88]; Borg et al., 2005 [89]
Schizophrenia #181500 SHANK3, NRXNs Gauthier et al., 2010 [14]; Rujescu et al., 2009 [90]