Human Gene Module / Chromosome X / MAOB

MAOBmonoamine oxidase B

SFARI Gene Score
2
Strong Candidate Criteria 2.1
Autism Reports / Total Reports
4 / 6
Rare Variants / Common Variants
4 / 3
Aliases
MAOB, RP1-201D17__B.1
Associated Syndromes
-
Chromosome Band
Xp11.3
Associated Disorders
DD/NDD
Relevance to Autism

Deletions affecting the MAOB gene (in addition to the MAOA gene) have been identified in affected male siblings from multiplex families presenting with ASD or autistic features, in addition to severe developmental delay and hypotonia (Saito et al., 2013; Whibley et al., 2010).

Molecular Function

The protein encoded by this gene belongs to the flavin monoamine oxidase family. It is a enzyme located in the mitochondrial outer membrane. It catalyzes the oxidative deamination of biogenic and xenobiotic amines and plays an important role in the metabolism of neuroactive and vasoactive amines in the central nervous sysytem and peripheral tissues. This protein preferentially degrades benzylamine and phenylethylamine.

External Links
Gene CardOpen Targets PlatformgnomAD browserPubMed
Human
Entrez GeneOMIMUniProtHumanBaseVariCarta
SFARI Genomic Platforms
GPF browser SFARI genome browser
Reports related to MAOB (6 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Support Deletion of MAOA and MAOB in a male patient causes severe developmental delay, intermittent hypotonia and stereotypical hand movements Whibley A , et al. (2010) No -
2 Support Monoamine oxidase A and A/B knockout mice display autistic-like features Bortolato M , et al. (2012) No -
3 Primary MAOA/B deletion syndrome in male siblings with severe developmental delay and sudden loss of muscle tonus Saito M , et al. (2013) Yes DD
4 Positive Association Genetic variants of MAOB affect serotonin level and specific behavioral attributes to increase autism spectrum disorder (ASD) susceptibility in males Chakraborti B , et al. (2016) Yes -
5 Support Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families Al-Mubarak B , et al. (2017) Yes -
6 Support - Bruno LP et al. (2021) Yes -
Rare Variants   (4)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_loss Familial Maternal Multiplex 23414621 Saito M , et al. (2013)
- - copy_number_loss Familial Maternal Multiplex 20485326 Whibley A , et al. (2010)
c.958G>A p.Glu320Lys missense_variant Familial Maternal Simplex 34948243 Bruno LP et al. (2021)
c.392G>T p.Ser131Ile missense_variant Familial Maternal Simplex 28720891 Al-Mubarak B , et al. (2017)
Common Variants   (3)
Status Allele Change Residue Change Variant Type Inheritance Pattern Paternal Transmission Family Type PubMed ID Author, Year
c.1461C>T;c.1476C>T;c.1413C>T;c.*79C>T;c.1323C>T - synonymous_variant - - - 27381555 Chakraborti B , et al. (2016)
c.1235+1294C>T;c.1250+1294C>T;c.1187+1294C>T;c.1090-4463C>T;c.1097+1294C>T - intron_variant - - - 27381555 Chakraborti B , et al. (2016)
c.1235+1478C>A;c.1250+1478C>A;c.1187+1478C>A;c.1090-4279C>A;c.1097+1478C>A - intron_variant - - - 27381555 Chakraborti B , et al. (2016)
SFARI Gene score
2

Strong Candidate

Deletions affecting the MAOB gene (in addition to the MAOA gene) have been identified in affected male siblings from multiplex families presenting with ASD or autistic features, in addition to severe developmental delay and hypotonia (Saito et al., 2013; Whibley et al., 2010). Polymorphisms in the MAOB gene were found to associate with ASD in a cohort of 203 cases and 236 controls from West Bengal, India (Chakraborti et al., 2016). Bortolato et al., 2013 found that MAOA/MAOB double knockout mice displayed more severe repetitive responses and neuropathological aberrances than MAOA knockout mice.

Score Delta: Score remained at 2

criteria met
See SFARI Gene'scoring criteria
2

Strong Candidate

See all Category 2 Genes

We considered a rigorous statistical comparison between cases and controls, yielding genome-wide statistical significance, with independent replication, to be the strongest possible evidence for a gene. These criteria were relaxed slightly for category 2.

4/1/2022
3
icon
2

Decreased from 3 to 2

Description

Deletions affecting the MAOB gene (in addition to the MAOA gene) have been identified in affected male siblings from multiplex families presenting with ASD or autistic features, in addition to severe developmental delay and hypotonia (Saito et al., 2013; Whibley et al., 2010). Polymorphisms in the MAOB gene were found to associate with ASD in a cohort of 203 cases and 236 controls from West Bengal, India (Chakraborti et al., 2016). Bortolato et al., 2013 found that MAOA/MAOB double knockout mice displayed more severe repetitive responses and neuropathological aberrances than MAOA knockout mice.

10/1/2019
4
icon
3

Decreased from 4 to 3

New Scoring Scheme
Description

Deletions affecting the MAOB gene (in addition to the MAOA gene) have been identified in affected male siblings from multiplex families presenting with ASD or autistic features, in addition to severe developmental delay and hypotonia (Saito et al., 2013; Whibley et al., 2010). Polymorphisms in the MAOB gene were found to associate with ASD in a cohort of 203 cases and 236 controls from West Bengal, India (Chakraborti et al., 2016). Bortolato et al., 2013 found that MAOA/MAOB double knockout mice displayed more severe repetitive responses and neuropathological aberrances than MAOA knockout mice.

Reports Added
[New Scoring Scheme]
7/1/2018
icon
4

Increased from to 4

Description

Deletions affecting the MAOB gene (in addition to the MAOA gene) have been identified in affected male siblings from multiplex families presenting with ASD or autistic features, in addition to severe developmental delay and hypotonia (Saito et al., 2013; Whibley et al., 2010). Polymorphisms in the MAOB gene were found to associate with ASD in a cohort of 203 cases and 236 controls from West Bengal, India (Chakraborti et al., 2016). Bortolato et al., 2013 found that MAOA/MAOB double knockout mice displayed more severe repetitive responses and neuropathological aberrances than MAOA knockout mice.

Reports Added
[Monoamine oxidase A and A/B knockout mice display autistic-like features.2012]
Krishnan Probability Score

Score 0.49171337716318

Ranking 5190/25841 scored genes


[Show Scoring Methodology]
Krishnan and colleagues generated probability scores genome-wide by using a machine learning approach on a human brain-specific gene network. The method was first presented in Nat Neurosci 19, 1454-1462 (2016), and scores for more than 25,000 RefSeq genes can be accessed in column G of supplementary table 3 (see: http://www.nature.com/neuro/journal/v19/n11/extref/nn.4353-S5.xlsx). A searchable browser, with the ability to view networks of associated ASD risk genes, can be found at asd.princeton.edu.
Original Source
ExAC Score

Score 0.97033961707094

Ranking 2354/18225 scored genes


[Show Scoring Methodology]
The Exome Aggregation Consortium (ExAC) is a summary database of 60,706 exomes that has been widely used to estimate 'constraint' on mutation for individual genes. It was introduced by Lek et al. Nature 536, 285-291 (2016), and the ExAC browser can be found at exac.broadinstitute.org. The pLI score was developed as measure of intolerance to loss-of- function mutation. A pLI > 0.9 is generally viewed as highly constrained, and thus any loss-of- function mutations in autism in such a gene would be more likely to confer risk. For a full list of pLI scores see: ftp://ftp.broadinstitute.org/pub/ExAC_release/release0.3.1/functional_gene_constraint/fordist_cle aned_exac_nonTCGA_z_pli_rec_null_data.txt
Original Source
Sanders TADA Score

Score 0.93002576553289

Ranking 11320/18665 scored genes


[Show Scoring Methodology]
The TADA score ('Transmission and De novo Association') was introduced by He et al. PLoS Genet 9(8):e1003671 (2013), and is a statistic that integrates evidence from both de novo and transmitted mutations. It forms the basis for the claim of 65 individual genes being strongly associated with autism risk at a false discovery rate of 0.1 (Sanders et al. Neuron 87, 1215-1233 (2015)). The calculated TADA score for 18,665 RefSeq genes can be found in column P of Supplementary Table 6 in the Sanders et al. paper (the column headed 'tadaFdrAscSscExomeSscAgpSmallDel'), which represents a combined analysis of exome data and small de novo deletions (see www.cell.com/cms/attachment/2038545319/2052606711/mmc7.xlsx).
Original Source
Zhang D Score

Score -0.14308733151264

Ranking 13915/20870 scored genes


[Show Scoring Methodology]
The DAMAGES score (disease-associated mutation analysis using gene expression signatures), or D score, was developed to combine evidence from de novo loss-of- function mutation with evidence from cell-type- specific gene expression in the mouse brain (specifically translational profiles of 24 specific mouse CNS cell types isolated from 6 different brain regions). Genes with positive D scores are more likely to be associated with autism risk, with higher-confidence genes having higher D scores. This statistic was first presented by Zhang & Shen (Hum Mutat 38, 204- 215 (2017), and D scores for more than 20,000 RefSeq genes can be found in column M in supplementary table 2 from that paper.
Original Source
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