Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

doi:10.1016/j.ajhg.2011.12.001

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Article

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

American journal of human genetics - 10 Feb 2012

Hood Rebecca L, Lines Matthew A, Nikkel Sarah M, Schwartzentruber Jeremy, Beaulieu Chandree, Nowaczyk Małgorzata J M, Allanson Judith, Kim Chong Ae, Wieczorek Dagmar, Moilanen Jukka S, Lacombe Didier, Gillessen-Kaesbach Gabriele, Whiteford Margo L, Quaio Caio Robledo D C, Gomy Israel, Bertola Debora R, Albrecht Beate, Platzer Konrad, McGillivray George, Zou Ruobing, McLeod D Ross, Chudley Albert E, Chodirker Bernard N, Marcadier Janet, Majewski Jacek, Bulman Dennis E, White Susan M, Boycott Kym M

Abstract excerpt

Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a distinctive facial appearance. Occurrence is generally sporadic, although parent-to-child transmission has been reported on occasion. Employing whole-...

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Identifiers

PMID: 22265015
DOI: 10.1016/j.ajhg.2011.12.001
PMCID: PMC3276662

Genes

SRCAP
CREBBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22265015-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.PMID 22265015Read ↗

Perthes disease: A new finding in Floating-Harbor syndrome.Semantic proximity Read ↗

When chromatin organisation floats astray: the Srcap gene and Floating-Harbor syndrome.Semantic proximity Read ↗

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndromeSemantic proximity Read ↗

Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.Semantic proximity Read ↗

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.Semantic proximity Read ↗

The defining DNA methylation signature of Floating-Harbor SyndromeSemantic proximity Read ↗

A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor SyndromeSemantic proximity Read ↗

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP.Semantic proximity Read ↗

Molecular Genetics and Pathogenesis of the Floating Harbor Syndrome: Case Report of Long-Term Growth Hormone Treatment and a Literature ReviewSemantic proximity Read ↗

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report.Semantic proximity Read ↗

Long-term follow-up study for a patient with Floating-Harbor syndrome due to a hotspot SRCAP mutation.Semantic proximity Read ↗

Floating-Harbor syndrome and polycystic kidneys associated with SRCAP mutation.Semantic proximity Read ↗

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