Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.

European journal of medical genetics - 1 Feb 2024

Harkness J Robert, Thomas Huw B, Urquhart Jill E, Jamieson Peter, O'Keefe Raymond T, Kingston Helen M, Deshpande Charulata, Newman William G

Abstract excerpt

Genetic variants in ATP7A are associated with a spectrum of X-linked disorders. In descending order of severity, these are Menkes disease, occipital horn syndrome, and X-linked distal spinal muscular atrophy. After 30 years of diagnostic investigation, we identified a deep intronic ATP7A variant in four males from a family affected to variable degrees by a predominantly skeletal phenotype, featuring bowing of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Copper-Transporting ATPases
Share to Cutis Laxa

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ehlers-Danlos Syndrome

Share to Mutation

Share to Peptide Fragments

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 38141875
DOI: 10.1016/j.ejmg.2023.104907
PMCID: PMC10918460

Genes

ATP7A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.PMID 38141875Read ↗

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

Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia.Semantic proximity Read ↗

Targeted Long-Read sequencing provides functional validation of variants predicted to alter splicingSemantic proximity Read ↗

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

Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.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 ↗

A Homozygous Deep Intronic SNX14 Variant Activates Pseudo-Exon Inclusion in a Patient with SCAR20Semantic proximity Read ↗

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

A Novel Splice Variant in the COL1A1 Gene Leads to Exon 46 Skipping and Osteogenesis Imperfecta.Semantic proximity Read ↗

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohortSemantic proximity Read ↗

Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations.Semantic proximity Read ↗

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.