{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:57:07Z","timestamp":1791853027460,"version":"4.3.4"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,1,30]],"date-time":"2025-01-30T00:00:00Z","timestamp":1738195200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Intl J of Devlp Neuroscience"],"published-print":{"date-parts":[[2025,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Menkes disease (MD) is a rare X\u2010linked recessive syndrome that is caused by mutations in the <jats:italic>ATP7A<\/jats:italic> gene, which encodes the P\u2010type ATP enzyme. The <jats:italic>ATP7A<\/jats:italic> gene encodes 1500 amino acids and is expressed in a number of organs, including the brain, muscles, kidneys and lungs. ATP7A transports copper between cell membranes using energy generated by ATP hydrolysis. Patients with the pathogenic variant in the <jats:italic>ATP7A<\/jats:italic> gene exhibit a distinctive pattern of severe neurodegeneration, which is often accompanied by specific alterations in hair morphology. The clinical manifestations of MD have been attributed to the dysfunction of copper\u2010dependent enzymes. Here, we report a 7\u2010month\u2010old boy with MD associated with a novel variant of <jats:italic>ATP7A<\/jats:italic> (c.1965_1973del, p.Val656_Leu658del). Genetic testing revealed that both his mother and grandmother had identical <jats:italic>ATP7A<\/jats:italic> mutations, and we studied this family to better understand the natural history of this syndrome. In this article, we report for the first time the novel mutation in the <jats:italic>ATP7A<\/jats:italic> gene in a Chinese family. In our case, he suffers from simian line, developmental delay, epilepsy, hair changes (short, thin, thick, twisted, often light\u2010coloured), decreased muscle tone, joint relaxation, brain vessel distortion, low serum copper, ceruloplasmin, elevated lactate and an abnormal EEG. Because of its rarity, MD is easily to be misdiagnosed.<\/jats:p>","DOI":"10.1002\/jdn.70001","type":"journal-article","created":{"date-parts":[[2025,1,30]],"date-time":"2025-01-30T08:57:38Z","timestamp":1738227458000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a Novel <i>ATP7A<\/i> Variant in a Chinese Boy With Developmental Delay and Epilepsy"],"prefix":"10.1002","volume":"85","author":[{"given":"Yun","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Neurology Women and Children's Hospital of Ningbo University  Ningbo China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Junhua","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Women and Children's Hospital of Ningbo University  Ningbo China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Radiology Women and Children's Hospital of Ningbo University  Ningbo China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Youquan","family":"Tu","sequence":"additional","affiliation":[{"name":"Department of Neurology Women and Children's Hospital of Ningbo University  Ningbo China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minghai","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Neurology Women and Children's Hospital of Ningbo University  Ningbo China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunyan","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Neurology Women and Children's Hospital of Ningbo University  Ningbo China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,1,30]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s42649\u2010021\u201000067\u20106"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/jimd.12590"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2022.100849"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3390\/biomedicines9040391"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2010.180"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010023\u201050668\u20102"},{"key":"e_1_2_9_8_1","first-page":"764","article-title":"A Sex\u2010Linked Recessive Disorder With Retardation of Growth, Peculiar Hair, and Focal Cerebral and Cerebellar Degeneration","volume":"29","author":"Menkes J. H.","year":"1962","journal-title":"Pediatrics"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.2147\/JMDH.S93454"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/bcr\u20102021\u2010247937"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2020.100625"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.187"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22266"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073814541469"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365\u20102818.2007.01747.x"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.3760\/cma.j.cn511374\u201020220816\u201000550"}],"container-title":["International Journal of Developmental Neuroscience"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jdn.70001","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,3,12]],"date-time":"2025-03-12T14:46:00Z","timestamp":1741790760000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jdn.70001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1,30]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,2]]}},"alternative-id":["10.1002\/jdn.70001"],"URL":"https:\/\/doi.org\/10.1002\/jdn.70001","archive":["Portico"],"relation":{},"ISSN":["0736-5748","1873-474X"],"issn-type":[{"value":"0736-5748","type":"print"},{"value":"1873-474X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1,30]]},"assertion":[{"value":"2024-09-19","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-13","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-30","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70001"}}