Human Gene Module / Chromosome 14 / SUPT16H

SUPT16HSPT16 homolog, facilitates chromatin remodeling subunit

Strong Candidate, Syndromic Criteria 2.1, Syndromic
Autism Reports / Total Reports
1 / 6
Rare Variants / Common Variants
6 / 0
SUPT16H, CDC68,  FACTP140,  SPT16,  SPT16/CDC68
Associated Syndromes
Genetic Category
Rare Single Gene Mutation
Chromosome Band
Associated Disorders
Relevance to Autism

A de novo missense variant that was predicted to be damaging was identifed in the SUPT16H gene in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014. Bina et al., 2020 identified five individuals with de novo variants affecting the SUPT16H gene, all of whom presenting with gross motor delay, delayed or absent speech, and cognitive delay/intellectual disability; two of the five individuals from this study also presented with autistic features. Microdeletions and microduplications involving the CHD8 and SUPT16H genes have also been observed in patients presenting with a spectrum of neurodevelopmental phenotypes, including ASD/autistic features (Drabova et al., 2015; Smyk et al., 2016; Yasin et al., 2019; Smol et al., 2020).

Molecular Function

The SUPT16H gene encodes for a component of the FACT complex, a general chromatin factor that acts to reorganize nucleosomes. The FACT complex is involved in multiple processes that require DNA as a template such as mRNA elongation, DNA replication and DNA repair. During transcription elongation the FACT complex acts as a histone chaperone that both destabilizes and restores nucleosomal structure. It facilitates the passage of RNA polymerase II and transcription by promoting the dissociation of one histone H2A-H2B dimer from the nucleosome, then subsequently promotes the reestablishment of the nucleosome following the passage of RNA polymerase II.

Reports related to SUPT16H (6 Reports)
# Type Title Author, Year Autism Report Associated Disorders
1 Primary The contribution of de novo coding mutations to autism spectrum disorder Iossifov I et al. (2014) Yes -
2 Support Long term follow-up in a patient with a de novo microdeletion of 14q11.2 involving CHD8. Drabova J , et al. (2015) No -
3 Support Novel 14q11.2 microduplication including the CHD8 and SUPT16H genes associated with developmental delay. Smyk M , et al. (2016) No -
4 Support A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by... Yasin H , et al. (2019) No -
5 Support Neurodevelopmental phenotype associated with CHD8-SUPT16H duplication. Smol T , et al. (2019) No -
6 Recent recommendation De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities. Bina R , et al. (2020) No Autistic features
Rare Variants   (6)
Status Allele Change Residue Change Variant Type Inheritance Pattern Parental Transmission Family Type PubMed ID Author, Year
- - copy_number_loss De novo NA - 31924697 Bina R , et al. (2020)
c.484A>G p.Ile162Val missense_variant De novo NA - 31924697 Bina R , et al. (2020)
c.1295T>C p.Leu432Pro missense_variant De novo NA - 31924697 Bina R , et al. (2020)
c.1907A>G p.Glu636Gly missense_variant De novo NA - 31924697 Bina R , et al. (2020)
c.2200C>T p.Arg734Trp missense_variant De novo NA - 31924697 Bina R , et al. (2020)
c.2078G>A p.Arg693Gln missense_variant De novo NA Simplex 25363768 Iossifov I et al. (2014)
Common Variants  

No common variants reported.

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