ArticlePloS one2011
Splice site mutations in the ATP7A gene.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Computational studies on the functional and structural impact of pathogenic mutations in enzymes.Protein science : a publication of the Protein Society · 2025Review
- Copper-histidine therapy in an infant with novel splice-site variant in theBMJ case reports · 2022Review
- Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease.Frontiers in genetics · 2022Article
- Occipital Horn Syndrome as a Result of Splice Site Mutations inFrontiers in molecular neuroscience · 2021Article
- Identification and functional characterization of a hemizygous novel intronic variant in OCRL gene causes Lowe syndrome.Clinical and experimental nephrology · 2020Article
- ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.Computational and structural biotechnology journal · 2020Article
- Novel splice site IDUA gene mutation in Tunisian pedigrees with hurler syndrome.Diagnostic pathology · 2018Article
- NovelThe application of clinical genetics · 2018Article
- A novel nonsenseMolecular genetics and metabolism reports · 2017Article
- Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.Scientific reports · 2017Article
- BRAT1 mutations present with a spectrum of clinical severity.American journal of medical genetics. Part A · 2016Review
- Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients.Metabolic brain disease · 2015Article
- Mottled Mice and Non-Mammalian Models of Menkes Disease.Frontiers in molecular neuroscience · 2015Review
- Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.PloS one · 2015Article
- Occipital horn syndrome and classical Menkes Syndrome caused by deep intronic mutations, leading to the activation of ATP7A pseudo-exon.European journal of human genetics : EJHG · 2014Article
- Alternative splicing events is not a key event for gene expression regulation in uremia.PloS one · 2013Article
- Exon duplications in the ATP7A gene: frequency and transcriptional behaviour.Orphanet journal of rare diseases · 2011Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Menkes disease (MD) is caused by mutations in the ATP7A gene. We describe 33 novel splice site mutations detected in patients with MD or the milder phenotypic form, Occipital Horn Syndrome. We review these 33 mutations together with 28 previously published splice site mutations. We investigate 12 mutations for their effect on the mRNA transcript in vivo. Transcriptional data from another 16 mutations were collected from the literature. The theoretical consequences of splice site mutations, predicted with the bioinformatics tool Human Splice Finder, were investigated and evaluated in relation to in vivo results. Ninety-six percent of the mutations identified in 45 patients with classical MD were predicted to have a significant effect on splicing, which concurs with the absence of any detectable wild-type transcript in all 19 patients investigated in vivo. Sixty-seven percent of the mutations identified in 12 patients with milder phenotypes were predicted to have no significant effect on splicing, which concurs with the presence of wild-type transcript in 7 out of 9 patients investigated in vivo. Both the in silico predictions and the in vivo results support the hypothesis previously suggested by us and others, that the presence of some wild-type transcript is correlated to a milder phenotype.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.