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Article

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

Human molecular genetics - 15 May 2014

Rainger Jacqueline K, Bhatia Shipra, Bengani Hemant, Gautier Philippe, Rainger Joe, Pearson Matt, Ansari Morad, Crow Jayne, Mehendale Felicity, Palinkasova Bozena, Dixon Michael J, Thompson Pamela J, Matarin Mar, Sisodiya Sanjay M, Kleinjan Dirk A, Fitzpatrick David R

Abstract excerpt

Heterozygous loss-of-function (LOF) mutations in the gene encoding the DNA-binding protein, SATB2, result in micrognathia and cleft palate in both humans and mice. In three unrelated individuals, we show that translocation breakpoints (BPs) up to 896 kb 3' of SATB2 polyadenylation site cause a phenotype which is indistinguishable from that caused by SATB2 LOF mutations. This syndrome comprises long nose, small...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 24363063
DOI: 10.1093/hmg/ddt647
PMCID: PMC3990159

Genes

SATB2
SOX9
PLCL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence.PMID 24363063Read ↗

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

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