{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T10:02:31Z","timestamp":1753869751583,"version":"3.41.2"},"reference-count":16,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2023,8,23]],"date-time":"2023-08-23T00:00:00Z","timestamp":1692748800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["R01HG011795"],"award-info":[{"award-number":["R01HG011795"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Genomic medicine is revolutionizing the diagnosis of rare diseases, but the implementation has not benefited underrepresented populations to the same degree. Here, we report the case of a 7\u2010year\u2010old boy with hypotonia, global developmental delay, strabismus, seizures, and previously suspected mitochondrial myopathy. This proband comes from an underrepresented minority and was denied exome sequencing by his public insurance.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>After informed consent was obtained, buccal cells from the proband were collected and whole exome sequencing was performed. Illumina Dragen and Emedgene software was used to analyze the data at Baylor Genetics. The variants were further intepreted according to ACMG guidelines and the patient's phenotype.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Through whole\u2010exome sequencing (WES) under the Community Texome project, he was found to have a heterozygous de novo pathogenic variant in the <jats:italic>ATP1A3<\/jats:italic> gene located on chromosome 19q13.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In retrospect, his symptomatology matches the known medical conditions associated with the <jats:italic>ATP1A3<\/jats:italic> gene namely Alternating Hemiplegia of Childhood 2 (AHC), a rare autosomal dominant disorder with an incidence of 1 in one million. His single nucleotide variant, (c.2401G&gt;A, p.D801N), is predicted to be damaging. The specific amino acid change p.D801N has been previously reported in ClinVar along with the allelic variant p.D801Y and both are considered pathogenic. The identification of this variant altered medical management for this patient as he was started on a calcium antagonist and has reported no further hemiplegic episodes. This case illustrates the value of implementing genomic medicine for precision therapy in underserved populations.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2272","type":"journal-article","created":{"date-parts":[[2023,8,24]],"date-time":"2023-08-24T06:45:06Z","timestamp":1692859506000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Precision therapy for a medically actionable <i>ATP1A3<\/i> variant from a genomic medicine program in an underserved population"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0914-6068","authenticated-orcid":false,"given":"Cara P.","family":"Ford","sequence":"first","affiliation":[{"name":"School of Medicine Meharry Medical College  Nashville Tennessee USA"},{"name":"Clinical Research Education Training Program at Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca O.","family":"Littlejohn","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine  San Antonio Texas USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8193-7329","authenticated-orcid":false,"given":"Ryan","family":"German","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Blake","family":"Vuocolo","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jose","family":"Aceves","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine  San Antonio Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liesbeth","family":"Vossaert","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Baylor Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nichole","family":"Owen","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Baylor Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5245-5910","authenticated-orcid":false,"given":"Michael","family":"Wangler","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"},{"name":"Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carrie A.","family":"Schmid","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Baylor College of Medicine  San Antonio Texas USA"},{"name":"Department of Molecular and Human Genetics Baylor College of Medicine  Houston Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"The Texome Project","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2023,8,23]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.2147\/TACG.S210325"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2017.12.009"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.3389\/fneur.2021.658451"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41390-020-01151-5"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.2217\/pme.13.75"},{"issue":"1","key":"e_1_2_10_7_1","first-page":"117","article-title":"Expediting rare disease diagnosis: A call to bridge the gap between clinical and functional genomics","volume":"26","author":"Hartin S. 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