Gene: HDAC8

Alternate names for this Gene: CDA07|CDLS5|HD8|HDACL1|KDAC8|MRXS6|RPD3|WTS

Gene Summary: Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class I of the histone deacetylase family. It catalyzes the deacetylation of lysine residues in the histone N-terminal tails and represses transcription in large multiprotein complexes with transcriptional co-repressors. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: X

Location in Chromosome : Xq13.1

Description of this Gene: histone deacetylase 8

Type of Gene: protein-coding

rs1057516037 in HDAC8 gene and CORNELIA DE LANGE SYNDROME 5 PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 30158690 2019 Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

PMID 22885700 2012 HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

PMID 26725122 2016 NIPBL Controls RNA Biogenesis to Prevent Activation of the Stress Kinase PKR.

PMID 24403048 2014 Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

PMID 27159028 2016 Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern.

PMID 26671848 2016 Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

PMID 24375697 2014 DIAMUND: direct comparison of genomes to detect mutations.

rs397515417 in HDAC8 gene and Dysmorphic features PMID 24038889 2013 Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

PMID 24718998 2014 Autism traits in children and adolescents with Cornelia de Lange syndrome.

PMID 15146186 2004 Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

PMID 25209348 2015 Cornelia de Lange syndrome.

PMID 17640042 2007 Natural history of aging in Cornelia de Lange syndrome.

PMID 22889856 2012 X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

PMID 24403048 2014 Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

PMID 15146185 2004 NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.

PMID 26671848 2016 Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

PMID 19886810 2009 Cohesin: its roles and mechanisms.

PMID 22885700 2012 HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

rs1057516037 in HDAC8 gene and Global developmental delay PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516037 in HDAC8 gene and Microcephaly (physical finding) PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs878853048 in HDAC8 gene and Multiple congenital anomalies PMID 19886810 2009 Cohesin: its roles and mechanisms.

PMID 26671848 2016 Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

PMID 22885700 2012 HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

PMID 24403048 2014 Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

PMID 24038889 2013 Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

PMID 22889856 2012 X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

PMID 17640042 2007 Natural history of aging in Cornelia de Lange syndrome.

PMID 25209348 2015 Cornelia de Lange syndrome.

PMID 24718998 2014 Autism traits in children and adolescents with Cornelia de Lange syndrome.

PMID 15146186 2004 Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

PMID 15146185 2004 NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.

rs397515417 in HDAC8 gene and Muscle hypotonia PMID 22885700 2012 HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle.

PMID 24718998 2014 Autism traits in children and adolescents with Cornelia de Lange syndrome.

PMID 25209348 2015 Cornelia de Lange syndrome.

PMID 24038889 2013 Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome.

PMID 26671848 2016 Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.

PMID 17640042 2007 Natural history of aging in Cornelia de Lange syndrome.

PMID 19886810 2009 Cohesin: its roles and mechanisms.

PMID 15146186 2004 Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B.

PMID 22889856 2012 X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.

PMID 24403048 2014 Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

PMID 15146185 2004 NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.

rs1057516037 in HDAC8 gene and Short stature PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.