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Article

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

American journal of human genetics - 1 Dec 2005

Schüle Birgitt, Oviedo Angelica, Johnston Kathreen, Pai Shashidhar, Francke Uta

Abstract excerpt

The rare, autosomal recessive Roberts syndrome (RBS) is characterized by tetraphocomelia, profound growth deficiency of prenatal onset, craniofacial anomalies, microcephaly, and mental deficiency. SC phocomelia (SC) has a milder phenotype, with a lesser degree of limb reduction and with survival to adulthood. Since heterochromatin repulsion (HR) is characteristic for both disorders and is not complemented in...

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Source

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Identifiers

PMID: 16380922
DOI: 10.1086/498695
PMCID: PMC1285169

Genes

ESCO2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.PMID 16380922Read ↗

Roberts syndrome in an Indian patient with humeroradial synostosis, congenital elbow contractures and a novel homozygous splice variant in ESCO2.Semantic proximity Read ↗

Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome.Semantic proximity Read ↗

Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2.Semantic proximity Read ↗

Expanding the mutation and clinical spectrum of Roberts syndrome.Semantic proximity Read ↗

The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.Semantic proximity Read ↗

Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2.Semantic proximity Read ↗

Cohesinopathies: One ring, many obligations.Semantic proximity Read ↗

ROBERTS SYNDROME: CLINICAL AND CYTOGENETIC STUDIES IN 8 EGYPTIAN PATIENTS AND MOLECULAR STUDIES IN 4 PATIENTS WITH GENOTYPE/PHENOTYPE CORRELATION.Semantic proximity Read ↗

Prenatal diagnosis of Roberts syndrome in a Chinese family based on ultrasound findings and whole exome sequencing: a case report.Semantic proximity Read ↗

Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrumSemantic proximity Read ↗

Cohesinopathies of a feather flock together.Semantic proximity Read ↗

Limb reduction in an Esco2 cohesinopathy mouse model is mediated by p53-dependent apoptosis and vascular disruptionSemantic proximity Read ↗

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