{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T02:48:29Z","timestamp":1791859709448,"version":"4.3.4"},"reference-count":20,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T00:00:00Z","timestamp":1791763200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T00:00:00Z","timestamp":1791763200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Harel\u2010Yoon syndrome is a rare mitochondrial disorder caused by pathogenic variants in\n                    <jats:italic>ATAD3A<\/jats:italic>\n                    , typically characterized by neonatal respiratory insufficiency, cataracts, developmental delay, hypotonia, and cerebellar atrophy. We report a pediatric patient with compound heterozygous missense variants in\n                    <jats:italic>ATAD3A<\/jats:italic>\n                    (c.655C&gt;T, p.R219C and c.980G&gt;C, p.R327P) who presented with an atypical phenotype manifested as early\u2010onset congenital cataracts and progressive dilated cardiomyopathy. Notably the patient did not show typical neurological manifestations nor the cardiac presentations of hypertrophic cardiomyopathy. The maternally inherited c.655C&gt;T variant was absent from population databases, while paternally inherited c.980G&gt;C was previously associated with Harel\u2010Yoon syndrome. In silico protein structure modeling demonstrated that the mutant ATAD3A hexamer showed a looser and more disorganized conformation compared to that of the wild\u2010type, suggesting functional impairment. This case expands the phenotypic spectrum of\n                    <jats:italic>ATAD3A<\/jats:italic>\n                    \u2010related disorders and highlights the importance of long\u2010term surveillance in patients with\n                    <jats:italic>ATAD3A<\/jats:italic>\n                    variants, even in the absence of classical neurological features. In addition, our findings support the inclusion of\n                    <jats:italic>ATAD3A<\/jats:italic>\n                    in the genetic differential diagnosis for patients with congenital cataracts and cardiomyopathy.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70327","type":"journal-article","created":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T02:27:12Z","timestamp":1791858432000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Compound Heterozygous\n                    <scp>ATAD3A<\/scp>\n                    Variants in Harel\u2010Yoon Syndrome With Congenital Cataracts and Dilated Cardiomyopathy"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5693-9760","authenticated-orcid":false,"given":"Tingting","family":"Wen","sequence":"first","affiliation":[{"name":"Department of Anesthesiology The First Affiliated Hospital, Zhejiang University School of Medicine  Zhejiang Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-8353-1244","authenticated-orcid":false,"given":"Hongyu","family":"Chen","sequence":"additional","affiliation":[{"name":"Zhejiang Key Laboratory of Neonatal Diseases  Hangzhou Zhejiang China"},{"name":"Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases  Zhejiang Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8693-5987","authenticated-orcid":false,"given":"Lan","family":"Yu","sequence":"additional","affiliation":[{"name":"Zhejiang Key Laboratory of Neonatal Diseases  Hangzhou Zhejiang China"},{"name":"Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases  Zhejiang Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6810-3346","authenticated-orcid":false,"given":"Xianghong","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardiac Intensive Care Uni Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Diseases  Zhejiang Hangzhou China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,12]]},"reference":[{"issue":"12","key":"e_1_2_9_2_1","doi-asserted-by":"crossref","DOI":"10.1016\/j.celrep.2021.110139","article-title":"ATAD3A Has a Scaffolding Role Regulating Mitochondria Inner Membrane Structure and Protein Assembly","volume":"37","author":"Arguello T.","year":"2021","journal-title":"Cell Reports"},{"issue":"17","key":"e_1_2_9_3_1","doi-asserted-by":"crossref","first-page":"i884","DOI":"10.1093\/bioinformatics\/bty560","article-title":"Fastp: An Ultra\u2010Fast All\u2010In\u2010One FASTQ Preprocessor","volume":"34","author":"Chen S.","year":"2018","journal-title":"Bioinformatics"},{"issue":"8","key":"e_1_2_9_4_1","doi-asserted-by":"crossref","first-page":"1432","DOI":"10.1093\/hmg\/ddx042","article-title":"ATPase\u2010Deficient Mitochondrial Inner Membrane Protein ATAD3A Disturbs Mitochondrial Dynamics in Dominant Hereditary Spastic Paraplegia","volume":"26","author":"Cooper H. 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