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Article

TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.

American journal of human genetics - 1 Oct 2007

Andreou Artemisia M, Pauws Erwin, Jones Marius C, Singh Manvendra K, Bussen Markus, Doudney Kit, Moore Gudrun E, Kispert Andreas, Brosens Jan J, Stanier Philip

Abstract excerpt

The T-box transcription factor TBX22 is essential for normal craniofacial development, as demonstrated by the finding of nonsense, frameshift, splice-site, or missense mutations in patients with X-linked cleft palate (CPX) and ankyloglossia. To better understand the function of TBX22, we studied...

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Share to Cleft Palate
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Share to Genetic Diseases, X-Linked

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutagenesis, Site-Directed

Share to Small Ubiquitin-Related Modifier Proteins

Share to SUMO-1 Protein

Share to T-Box Domain Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 17846996
DOI: 10.1086/521033
PMCID: PMC2227921

Genes

TBX22

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17846996-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression.PMID 17846996Read ↗

The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia.Semantic proximity Read ↗

Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients.Semantic proximity Read ↗

Function of the C. elegans T-box factor TBX-2 depends on SUMOylation.Semantic proximity Read ↗

X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.Semantic proximity Read ↗

Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.Semantic proximity Read ↗

Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.Semantic proximity Read ↗

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.Semantic proximity Read ↗

Cloning and expression analysis of the chick ortholog of TBX22, the gene mutated in X-linked cleft palate and ankyloglossia.Semantic proximity Read ↗

TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome.Semantic proximity Read ↗

Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients.Semantic proximity Read ↗

Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families.Semantic proximity Read ↗

TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in Cousin syndrome.Semantic proximity Read ↗

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