{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Writzl K"],"funding":["the Republic of Slovenia Research Agency"],"pagination":["1077"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12469850"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["16(9)"],"pubmed_abstract":["<b>Background:</b> Pathogenic hemizygous variants in <i>ATP7A</i> most commonly cause Menkes disease or occipital horn syndrome (OHS), whereas <i>ATP7A</i>-related distal hereditary motor neuropathy (dHMN) is rarely reported. Here, we describe two adult brothers with an overlapping dHMN/OHS phenotype caused by a novel <i>ATP7A</i> splice-site variant and review the clinical and genetic features of previously published patients with <i>ATP7A</i>-related dHMN. <b>Methods:</b> We performed detailed clinical, electrophysiological, and genetic evaluations of both siblings, including exome sequencing and RNA analysis. Additionally, we reviewed the clinical, electrophysiological, and genetic data of previously reported patients with <i>ATP7A</i>-related dHMN. <b>Results:</b> We identified a novel"],"journal":["Genes"],"pubmed_title":["Novel &lt;i&gt;ATP7A&lt;/i&gt; Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review."],"pmcid":["PMC12469850"],"funding_grant_id":["No. P3-0338, J3-9280, V3-2359 and P3-0326."],"pubmed_authors":["Leonardis L","Skrjanec Pusenjak M","Maver A","Writzl K","Pecaric Meglic N","Peterlin B","Jus M"],"additional_accession":[]},"is_claimable":false,"name":"Novel &lt;i&gt;ATP7A&lt;/i&gt; Splice-Site Variant Causing Distal Motor Neuropathy and Occipital Horn Syndrome: Two Siblings and Literature Review.","description":"<b>Background:</b> Pathogenic hemizygous variants in <i>ATP7A</i> most commonly cause Menkes disease or occipital horn syndrome (OHS), whereas <i>ATP7A</i>-related distal hereditary motor neuropathy (dHMN) is rarely reported. Here, we describe two adult brothers with an overlapping dHMN/OHS phenotype caused by a novel <i>ATP7A</i> splice-site variant and review the clinical and genetic features of previously published patients with <i>ATP7A</i>-related dHMN. <b>Methods:</b> We performed detailed clinical, electrophysiological, and genetic evaluations of both siblings, including exome sequencing and RNA analysis. Additionally, we reviewed the clinical, electrophysiological, and genetic data of previously reported patients with <i>ATP7A</i>-related dHMN. <b>Results:</b> We identified a novel","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Sep","modification":"2026-05-03T03:16:47.901Z","creation":"2026-05-03T03:11:27.333Z"},"accession":"S-EPMC12469850","cross_references":{"pubmed":["41010022"],"doi":["10.3390/genes16091077"]}}