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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]