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. Author manuscript; available in PMC: 2022 Jan 1.
Published in final edited form as: Neurochem Int. 2021 May 6;147:105055. doi: 10.1016/j.neuint.2021.105055

Table 2.

Family Subunit Syndrome/NDD Mutations Clinical brain Phenotypes References
Gene Protein
NuRD CHD3 CHD3 Snyders Blok-Campeau Syndrome Missense, nonsense, frameshift, deletion, splice-site variant ID, DD, delayed myelination, macrocephaly/microcephaly Drivas et al. (2020); Snijders Blok et al., 2018
CHD4 CHD4 Sifrim-Hitz-Weiss syndrome (SIHIWES) Missense, in-frame deletions, nonsense ID, DD, macrocephaly, hydrocephalus, thin corpus callosum, Farnung et al. (2020); Weiss et al. (2020)
CHD5 CHD5 Autism-like Missense DD, cerebral palsy, speech impairment http://www.mygene2.org [03 October 2020 accessed]
MBD2/3 MBD2/3 Autism SNPs Cukier et al. (2009); Li et al. (2005)
HDAC1/2 HDAC1/2 Schizophrenia, Angelman syndrome ID, DD Jamal et al. (2017); Schroeder et al. (2017); Sharma et al. (2008)
GATAD2B GATAD2B GATAD2B-associated neurodevelopmental disorder (GAND) Deletion, frameshift, nonsense, splice-site, missense ID, DD, macrocephaly, thin corpus callosum, widened CSF spaces, hypomyelination de Ligt et al. (2012); Hamdan et al. (2014); Luo et al, 2017; Shieh et al. (2020); Ueda et al. (2019); Willemsen et al. (2013)
KDM1A KDM1A Kabuki and KBG-like syndrome Missense, nonsense, splice-variant, nonsense ID, DD, thin corpus callosum, delayed myelination, cerebellar defects Chong et al., 2015; Rauch et al. (2012); Tunovic et al. (2014)
BAF ARIDla BAF250A Coffin Siris Syndrome Nonsense, frameshift indel, missense CNS structural abnormalities Bramswig et al. (2017); Tsurusaki et al. (2012); Wieczorek et al. (2013)
SMARCA4 BRG1
SMARCE1 BAF57
ARID2 BAF200
SMARCA2 BRM Coffin Siris syndrome, Nicolaides-Baraitser syndrome, Schizophrenia Partial deletion, missense, intronic alteration, duplication CNS structural abnormalities, ID, microcephaly, behavioural problems and seizures, delusions, thought disorder, cognitive dysfunction Ejaz et al. (2016); Miyake et al., 2014; Sousa et al. (2014); Wolff et al., 2012
SMARCB1 BAF47 Coffin Siris Syndrome, Kleefstra syndrome In-frame deletion, missense CNS structural abnormalities, ID, behavioural anomalies Kleefstra et al., 2012; Santen et al., 2013; Tsurusaki et al. (2012); Wieczorek et al., 2013
ARIDlb BAF250B Coffin Siris Syndrome, ID, Hirschsprung’s disease, Schizophrenia, Autism, 6q25 Microdeletion Syndrome Missense, nonsense, frameshift indel, translocation, microdeletion, interstitial deletion CNS structural abnormalities, developmental delay, epilepsy, and hypoplasia of the corpus callosum and cerebellum, delusions, thought disorder, cognitive dysfunction, defects in social and communication skills, restricted and repetitive behaviour, corpus callosum agenesis Backx et al. (2011); Halgren et al. (2012); Santen et al., 2013; Takenouchi et al. (2016), Ronzoni et al. (2016)
SMARCD1 BAF60 Coffin Siris Syndrome, Nicolaides-Baraitser syndrome Missense, nonsense CNS structural abnormalities, ID, microcephaly, behavioural problems and seizures Machol et al. (2019); Nixon et al., 2019
SMARCC1 BAF155 Autism Missense Defects in social and communication skills, restricted and repetitive behaviour Neale et al. (2013); O’Roak et al. (2012)
PBRM BAF180a Autism Missense
ACTL6b BAF53b Autism Missense Defects in social and communication skills, restricted and repetitive behaviour Bell et al. (2019); Wenderski et al. (2020)
ACTL6b BAF53b DECAM syndrome Developmental delay, Epileptic encephalopathy, Cerebral atrophy and abnormal Myelination Bell et al. (2019); Yuksel et al. (2019)
BCL11a BAF100a Autism, Schizophrenia, p15–16.1 Microdeletion syndrome, Intellectual Disability Microdeletion, missense, frameshift Defects in social and communication skills, restricted and repetitive behaviour, delusions, thought disorder, cognitive dysfunction, developmental delay, hearing and visual impairment and corpus callosum agenesis Basak et al. (2015); Bagheri et al. (2016); Chen et al. (2020); De Rubeis et al. (2014), Korenke et al. (2020)
SMARCC2 BAF170 Coffin Siris Syndrome, Nicolaides-Baraitser syndrome like, Autism Splice site mutation CNS structural abnormalities, ID, microcephaly, behavioural problems and seizures, defects in social and communication skills, restricted and repetitive behaviour Machol et al. (2019)
ISWI SMARCA1 SNF2L Coffin-Siris like syndrome; Schizophrenia Nonsense, missense ID, microcephaly with cortical atrophy, spasticity, dysmorphic features Homann et al. (2016); Karaca et al. (2015)
BAZ1A ACF-1 Intellectual Disability Missense ID, corpus callosum agenesis Zaghlool et al. (2016)
BAZ1B WSTF Williams Syndrome Microdeletion Anxiety, ADHD Lalli et al. (2016)
BPTF BPTF Unnamed syndrome; Silver-Russell syndrome Nonsense, missense, frameshift, CNV deletion, splice-variant ID, DD, microcephaly, dysmorphic facial features; pre- and postnatal growth retardation Stankiewicz et al. (2017); Wakeling et al. (2017)
RAD21 RAD21 Cornelia de Lange (CdL) LOF Microcephaly, holoprosencephaly Goel 2020; Kruszka et al. (2019)
SMC1 SMC1 Cornelia de Lange syndrome and holoprosencephaly Nonsense, missense Holoprosencephaly Kruszka et al. (2019)
SMC3 SMC3 ID and holoprosencephaly Missense, nonsense, in-frame deletion/duplication Holoprosencephaly Kruszka et al. (2019)
STAG2 SA2 STAG2-related X-linked Intellectual Deficiency and holoprosencephaly LOF Moderate ID, language and hearing defects, developmental delay, microcephaly, characteristic facial features, holoprosencephaly Kruszka et al. (2019); Soardi et al. (2017)
INO80/SWR1 INO80 Intellectual Disability and Global developmental delay ID, DD, microcephaly Alazami et al. (2015)
SRCAP Floating Harbor Syndrome Nonsense ID, ADHD, speech delay, cranio-facial features Greenberg et al. (2019); Homma et al. (2019); Zhang et al. (2019)
TIP60/KAT5 Unnamed syndrome Missense ID, DD, corpus callosum agenesis/dysgenesis, characteristic facial features Humbert et al. (2020)
Other CHDs CHD1 CHD1 Pilarowski-Bj ornsson Syndrome, 5q15-q21.2 deletion, ASD Missense, deletion Speech apraxia, DD, autism, craniofacial dysmorphism, motor delay Neale et al. (2013); Pilarowski et al. (2018); Zepeda-Mendoza et al., 2019
CHD2 CHD2 Developmental Epileptic Encephalopathy, Epilepsy with myoclonicatonic epilepsy, ASD Nonsense, missense, deletion Photosensitivity, myoclonic seizures, ID Angione et al. (2019); Carvill et al. (2013); Neale et al. (2013); Trivisano et al. (2015)
CHD7 CHD7 CHARGE Syndrome, ASD Missense, nonsense, frameshift, microdeletions, translocation, intronic SNV Developmental delay, hearing impairment, defects in social and communication skills, restricted and repetitive behaviour Johnson et al. (2006); O’Roak et al., 2012; Vissers et al. (2004); Zhang et al. (2020)
CHD8 CHD8 14q11.2 microdeletion, Zahir Friedman syndrome, Schizophrenia de novo deletion, Microdeletion, CNVs, missense, frameshift, nonsense, single amino acid deletions, duplications, point mutations Developmental delay, cognitive impairment, dysmorphic features, ASD/DD/ID, macrocephaly, speech defects, defects in social and communication skills, restricted and repetitive behaviour, hallucinations, persecutory delutions and catatonic behaviors Bernier et al. (2014); Kimura et al., (2016); McCarthy et al., (2014); Merner et al., 2016; Stessman et al. (2017); Talkowski et al., 2012; Yasin et al. (2019); Yasin et al., 2020; Zahir et al., 2007