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Article

Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome.

Human molecular genetics - 15 May 2012

Kerzendorfer Claudia, Hannes Femke, Colnaghi Rita, Abramowicz Iga, Carpenter Gillian, Vermeesch Joris Robert, O'Driscoll Mark

Abstract excerpt

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion disorder associated with the distal part of the short arm of chromosome 4 (4p16.3). Employing a unique panel of patient-derived cell lines with differing-sized 4p deletions, we provide evidence that haploinsufficiency of SLBP and/or WHS...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 4

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Haploinsufficiency

Share to mRNA Cleavage and Polyadenylation Factors

Share to Nuclear Proteins

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Share to Transcriptional Elongation Factors

Source

Identifiers

PMID: 22328085
DOI: 10.1093/hmg/dds033

Genes

SLBP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22328085-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome.PMID 22328085Read ↗

The delineation of the Wolf-Hirschhorn syndrome over six decades: Illustration of the ongoing advances in phenotype analysis and cytogenomic technology.Semantic proximity Read ↗

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Wolf-Hirschhorn Syndrome-associated genes are enriched in motile neural crest and affect craniofacial development in <i>Xenopus laevis</i>Semantic proximity Read ↗

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On the nosology and pathogenesis of Wolf-Hirschhorn syndrome: genotype-phenotype correlation analysis of 80 patients and literature review.Semantic proximity Read ↗

The Whsc2/NelfA -dependent transcription complex is required for postnatal cardiac development and heart functionSemantic proximity Read ↗

Unmasking of a hemizygous WFS1 gene mutation by a chromosome 4p deletion of 8.3 Mb in a patient with Wolf-Hirschhorn syndrome.Semantic proximity Read ↗

Two unique patients with novel microdeletions in 4p16.3 that exclude the WHS critical regions: Implications for critical region designationSemantic proximity Read ↗

Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.Semantic proximity Read ↗

Deletions involving genes WHSC1 and LETM1 may be necessary, but are not sufficient to cause Wolf-Hirschhorn Syndrome.Semantic proximity Read ↗

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome.Semantic proximity Read ↗

WHSC1, a 90 kb SET Domain-Containing Gene, Expressed in Early Development and Homologous to a Drosophila Dysmorphy Gene Maps in the Wolf-Hirschhorn Syndrome Critical Region and is Fused to IgH in t(1;14) Multiple MyelomaSemantic proximity Read ↗

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