Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Research Abstract Details 

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Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Abstract Text:

Marianne L Seto,Anne V Hing,Jocelyn Chang,Ming Hu,Kathleen A Kapp-Simon,Pravin K Patel,Barbara K Burton,Alex A Kane,Matthew D Smyth,Richard Hopper,Richard G Ellenbogen,Kevin Stevenson,Matthew L Speltz,Michael L Cunningham,

Craniosynostosis, the premature fusion of one or more cranial sutures, affects 1 in 2,500 live births. Isolated single-suture fusion is most prevalent, with sagittal synostosis occurring in 1/5,000 live births. The etiology of isolated (nonsyndromic) single-suture craniosynostosis is largely unknown. In syndromic craniosynostosis, there is a highly nonrandom pattern of causative autosomal dominant mutations involving TWIST1 and fibroblast growth factor receptors (FGFRs). Prior to our study, there were no published TWIST1 mutations in the anti-osteogenic C-terminus, recently coined the TWIST Box, which binds and inhibits RUNX2 transactivation. RUNX2 is the principal master switch for osteogenesis. We performed mutational analysis on 164 infants with isolated, single-suture craniosynostosis for mutations in TWIST1, the IgIIIa exon of FGFR1, the IgIIIa and IgIIIc exons of FGFR2, and the Pro250Arg site of FGFR3. We identified two patients with novel TWIST Box mutations: one with isolated sagittal synostosis and one with isolated coronal synostosis. Kress et al. [2006] reported a TWIST Box "nondisease-causing polymorphism" in a patient with isolated sagittal synostosis. However, compelling evidence suggests that their and our sequence alterations are pathogenic: (1) a mouse with a mutation of the same residue as our sagittal synostosis patient developed sagittal synostosis, (2) mutation of the same residue precluded TWIST1 interaction with RUNX2, (3) each mutation involved nonconservative amino acid substitutions in highly conserved residues across species, and (4) control chromosomes lacked TWIST Box sequence alterations. We suggest that genetic testing of patients with isolated sagittal or coronal synostosis should include TWIST1 mutational analysis.

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Publishing Authors By Initials

ML Seto,AV Hing,J Chang,M Hu,KA Kapp-Simon,PK Patel,BK Burton,AA Kane,MD Smyth,R Hopper,RG Ellenbogen,K Stevenson,ML Speltz,ML Cunningham,

For similar proteins: dna-binding proteins: basic helix-loop-helix transcription factors: twist transcription factor research abstracts see: proteins: dna-binding proteins: basic helix-loop-helix transcription factors: twist transcription factor research

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Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: American journal of medical genetics. Part A

VOLUME: 143

Page Numbers: 678-86

Journal Abbreviation: Am. J. Med. Genet. A

ISSN: 1552-4825

DAY: 1

MONTH: Apr

YEAR: 2007

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 101235741

Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Keywords Mesh Terms:

KEYWORDS: Twist Transcription Factor

MESH TERMS: metabolism

Chemical & Substance for Abstract: Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Information

Substance Name: Twist Transcription Factor

Registry Number: 0

Grant and Affiliation Information for Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations.

AFFILIATION: Division of Craniofacial Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195-6320, USA. mseto@u.washington.edu

Country: United States

AGENCY: United States NIDCR

GRANT: R01 DE13813

ACRONYM: DE

MEDLINETA: Am J Med Genet A

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