{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T02:00:33Z","timestamp":1760234433436,"version":"build-2065373602"},"reference-count":38,"publisher":"MDPI AG","issue":"5","license":[{"start":{"date-parts":[[2021,5,14]],"date-time":"2021-05-14T00:00:00Z","timestamp":1620950400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003141","name":"Consejo Nacional de Ciencia y Tecnolog\u00eda","doi-asserted-by":"publisher","award":["SEP-CB-128567, -FOMIX-203220, -SSA\/IMSS\/ISSSTE-138721, and -INFR-254106 and 225520"],"award-info":[{"award-number":["SEP-CB-128567, -FOMIX-203220, -SSA\/IMSS\/ISSSTE-138721, and -INFR-254106 and 225520"]}],"id":[{"id":"10.13039\/501100003141","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Menkes disease (MD) is a rare and often lethal X-linked recessive syndrome, characterized by generalized alterations in copper transport and metabolism, linked to mutations in the ATPase copper transporting \u03b1 (ATP7A) gene. Our objective was to identify genomic alterations and circulating proteomic profiles related to MD assessing their potential roles in the clinical features of the disease. We describe the case of a male patient of 8 months of age with silvery hair, tan skin color, hypotonia, alterations in neurodevelopment, presence of seizures, and low values of plasma ceruloplasmin. Trio-whole-exome sequencing (Trio-WES) analysis, plasma proteome screening, and blood cell migration assays were carried out. Trio-WES revealed a hemizygous change c.4190C &gt; T (p.S1397F) in exon 22 of the ATP7A gene. Compared with his parents and with child controls, 11 plasma proteins were upregulated and 59 downregulated in the patient. According to their biological processes, 42 (71.2%) of downregulated proteins had a participation in cellular transport. The immune system process was represented by 35 (59.3%) downregulated proteins (p = 9.44 \u00d7 10\u221211). Additional studies are necessary to validate these findings as hallmarks of MD.<\/jats:p>","DOI":"10.3390\/genes12050744","type":"journal-article","created":{"date-parts":[[2021,5,14]],"date-time":"2021-05-14T10:54:22Z","timestamp":1620989662000},"page":"744","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease"],"prefix":"10.3390","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1478-9068","authenticated-orcid":false,"given":"Margarita L.","family":"Martinez-Fierro","sequence":"first","affiliation":[{"name":"Molecular Medicine Laboratory, Unidad Acad\u00e9mica de Medicina Humana y C.S, Universidad Aut\u00f3noma de Zacatecas, Carretera Zacatecas-Guadalajara Km.6, Ejido la Escondida, Zacatecas 98160, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Griselda A.","family":"Cabral-Pacheco","sequence":"additional","affiliation":[{"name":"Molecular Medicine Laboratory, Unidad Acad\u00e9mica de Medicina Humana y C.S, Universidad Aut\u00f3noma de Zacatecas, Carretera Zacatecas-Guadalajara Km.6, Ejido la Escondida, Zacatecas 98160, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6307-1696","authenticated-orcid":false,"given":"Idalia","family":"Garza-Veloz","sequence":"additional","affiliation":[{"name":"Molecular Medicine Laboratory, Unidad Acad\u00e9mica de Medicina Humana y C.S, Universidad Aut\u00f3noma de Zacatecas, Carretera Zacatecas-Guadalajara Km.6, Ejido la Escondida, Zacatecas 98160, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jesus","family":"Acu\u00f1a-Qui\u00f1ones","sequence":"additional","affiliation":[{"name":"Molecular Medicine Laboratory, Unidad Acad\u00e9mica de Medicina Humana y C.S, Universidad Aut\u00f3noma de Zacatecas, Carretera Zacatecas-Guadalajara Km.6, Ejido la Escondida, Zacatecas 98160, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1442-9089","authenticated-orcid":false,"given":"Laura E.","family":"Martinez-de-Villarreal","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Facultad de Medicina, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey 64460, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3875-4532","authenticated-orcid":false,"given":"Marisol","family":"Ibarra-Ramirez","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica, Facultad de Medicina, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey 64460, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joke","family":"Beuten","sequence":"additional","affiliation":[{"name":"AiLife Diagnostics, 1920 Country Pl Pkwy Suite 100, Pearland, TX 77584, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samantha E.","family":"Sanchez-Guerrero","sequence":"additional","affiliation":[{"name":"Hospital General Zacatecas \u201cLuz Gonz\u00e1lez Cos\u00edo\u201d, Servicios de Salud de Zacatecas, Zacatecas 98160, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Villarreal-Martinez","sequence":"additional","affiliation":[{"name":"Hematology Service, Hospital Universitario \u201cDr. Jos\u00e9 Eleuterio Gonz\u00e1lez\u201d, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Monterrey 64460, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9848-862X","authenticated-orcid":false,"given":"Ivan","family":"Delgado-Enciso","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine, School of Medicine, University of Colima, Colima 28040, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iram P.","family":"Rodriguez-Sanchez","sequence":"additional","affiliation":[{"name":"Molecular and Structural Physiology Laboratory, School of Biological Sciences, Autonomous University of Nuevo Le\u00f3n, Monterrey 64460, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vania Z.","family":"Zu\u00f1iga-Ramirez","sequence":"additional","affiliation":[{"name":"Molecular Medicine Laboratory, Unidad Acad\u00e9mica de Medicina Humana y C.S, Universidad Aut\u00f3noma de Zacatecas, Carretera Zacatecas-Guadalajara Km.6, Ejido la Escondida, Zacatecas 98160, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edith","family":"Cardenas-Vargas","sequence":"additional","affiliation":[{"name":"Hospital General Zacatecas \u201cLuz Gonz\u00e1lez Cos\u00edo\u201d, Servicios de Salud de Zacatecas, Zacatecas 98160, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viktor","family":"Romero-Diaz","sequence":"additional","affiliation":[{"name":"Department of Histology, Universidad Aut\u00f3noma de Nuevo Le\u00f3n, Facultad de Medicina, Monterrey 64460, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2021,5,14]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"780","DOI":"10.1111\/pde.13624","article-title":"Usefulness of the skin biopsy as a tool in the diagnosis of silvery hair syndrome","volume":"35","year":"2018","journal-title":"Pediatr. 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