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Article

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.

Nature genetics - 1 Oct 1994

Kaler S G, Gallo L K, Proud V K, Percy A K, Mark Y, Segal N A, Goldstein D S, Holmes C S, Gahl W A

Abstract excerpt

We have found mutations in the Menkes disease gene (MNK) which impair, but do not abolish, correct mRNA splicing in patients with less severe clinical phenotypes. In one family, four males aged 2-36 years with a distinctive Menkes variant have a mutation at the +3 position of a splice donor site near the 3' end of the Menkes coding sequence that is associated with exon skipping and a stable mutant transcript. In...

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PMID: 7842019
DOI: 10.1038/ng1094-195

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

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus.PMID 7842019Read ↗

Similar splice-site mutations of the ATP7A gene lead to different phenotypes: classical Menkes disease or occipital horn syndrome.Semantic proximity Read ↗

Splice site mutations in the ATP7A gene.Semantic proximity Read ↗

Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/Occipital horn syndrome in three affected males in a single familySemantic proximity Read ↗

Metabolic and Molecular Bases of Menkes Disease and Occipital Horn SyndromeSemantic proximity Read ↗

Distinctive Menkes disease variant with occipital horns: delineation of natural history and clinical phenotype.Semantic proximity Read ↗

Diverse mutations in patients with Menkes disease often lead to exon skipping.Semantic proximity Read ↗

ATP7A gene mutations in 16 patients with Menkes disease and a patient with occipital horn syndrome.Semantic proximity Read ↗

A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease.Semantic proximity Read ↗

Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.Semantic proximity Read ↗

Similar splicing mutations of the Menkes/mottled copper-transporting ATPase gene in occipital horn syndrome and the blotchy mouse.Semantic proximity Read ↗

Constitutive skipping of alternatively spliced exon 10 in the ATP7A gene abolishes Golgi localization of the menkes protein and produces the occipital horn syndrome.Semantic proximity Read ↗

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.Semantic proximity Read ↗

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