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Article

Identification of SATB2 as the cleft palate gene on 2q32-q33

5 Aug 2003

Abstract excerpt

Cytogenetic evidence, in the form of deletions and balanced translocations, points to the existence of a locus on 2q32-q33, for which haploinsufficiency results in isolated cleft palate (CPO). Here we show by high-resolution FISH mapping of two de novo CPO-associated translocations involving 2q32-q33 that one breakpoint interrupts the transcription unit of the gene encoding the DNA-binding protein SATB2 (formerly...

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PMID: 12915443
DOI: 10.1093/hmg/ddg248

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Related research

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Identification of SATB2 as the cleft palate gene on 2q32-q33PMID 12915443Read ↗

Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.Semantic proximity Read ↗

Further delineation of the SATB2 phenotype.Semantic proximity Read ↗

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Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2-Associated Syndrome.Semantic proximity Read ↗

Further supporting evidence for the SATB2‐associated syndrome found through whole exome sequencingSemantic proximity Read ↗

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion SyndromeSemantic proximity Read ↗

A novel mutation of SATB2 inhibits odontogenesis of human dental pulp stem cells through Wnt/β-catenin signaling pathway.Semantic proximity Read ↗

Progress of epigenetic modification of SATB2 gene in the pathogenesis of non-syndromic cleft lip and palate.Semantic proximity Read ↗

Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.Semantic proximity Read ↗

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

Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome.Semantic proximity Read ↗

The human BARX2 gene: genomic structure, chromosomal localization, and single nucleotide polymorphisms.Semantic proximity Read ↗

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