Gene: TWIST1

Alternate names for this Gene: ACS3|BPES2|BPES3|CRS|CRS1|CSO|SCS|SWCOS|TWIST|bHLHa38

Gene Summary: This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism.

Gene is located in Chromosome: 7

Location in Chromosome : 7p21.1

Description of this Gene: twist family bHLH transcription factor 1

Type of Gene: protein-coding

rs10225279 in TWIST1 gene and Alopecia PMID 28196072 2017 Genetic prediction of male pattern baldness.

rs121909188 in TWIST1 gene and Craniosynostosis, Type 1 PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 8988167 1997 Mutations of the TWIST gene in the Saethre-Chotzen syndrome.

PMID 10649491 2000 Mutations in the human TWIST gene.

PMID 20643727 2010 Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

PMID 19373776 2009 Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.

PMID 17343269 2007 Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.

PMID 16251895 2006 Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.

PMID 19755431 2010 Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.

PMID 8988166 1997 Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.

PMID 11992718 2002 A Twist in fate: evolutionary comparison of Twist structure and function.

PMID 14513358 2003 Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

PMID 20184424 2010 Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.

PMID 25271085 2015 Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

PMID 9792856 1998 A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

PMID 9585583 1998 Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

PMID 15923834 2005 Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

PMID 19483581 2009 Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.

PMID 17693524 2007 Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

rs430 in TWIST1 gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs1554442016 in TWIST1 gene and SWEENEY-COX SYNDROME PMID 28369379 2017 Here, we describe a new clinical entity, Sweeney-Cox syndrome, associated with distinct de novo amino acid substitutions (p.Glu117Val and p.Glu117Gly) at a highly conserved glutamic acid residue located in the basic DNA binding domain of TWIST1, in two subjects with frontonasal dysplasia and additional malformations.

rs104894057 in TWIST1 gene and Saethre-Chotzen Syndrome PMID 11754069 2001 Another TWIST on Baller-Gerold syndrome.

PMID 8988167 1997 Mutations of the TWIST gene in the Saethre-Chotzen syndrome.

PMID 8988166 1997 Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome.

PMID 10649491 2000 Mutations in the human TWIST gene.

PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 20643727 2010 Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

PMID 19373776 2009 Breast cancer risk is not increased in individuals with TWIST1 mutation confirmed Saethre-Chotzen syndrome: an Australian multicenter study.

PMID 14513358 2003 Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

PMID 16251895 2006 Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome.

PMID 11992718 2002 A Twist in fate: evolutionary comparison of Twist structure and function.

PMID 19755431 2010 Scalp fibroblasts have a shared expression profile in monogenic craniosynostosis.

PMID 25271085 2015 Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

PMID 9585583 1998 Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations.

PMID 15923834 2005 Clinical and genetic analysis of patients with Saethre-Chotzen syndrome.

PMID 19483581 2009 Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review.

PMID 20184424 2010 Saethre-Chotzen syndrome, Pro136His TWIST mutation, hearing loss, and external and middle ear structural anomalies: report on a Brazilian family.

PMID 9792856 1998 A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 17693524 2007 Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.

rs2717329 in TWIST1 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.