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The deletion encompassed the first exon of both the <jats:italic>ERCC8<\/jats:italic> and <jats:italic>NDUFAF2<\/jats:italic> genes, which are responsible for Cockayne syndrome (CS) and mitochondrial complex I deficiency, respectively. Furthermore, RNA\u2010seq confirmed the reduced expression of both genes. Indeed, in addition to clinical features common to both syndromes, such as growth retardation, developmental delay, and feeding difficulties, the patient exhibited blended phenotypes: the characteristic features of CS, including arthrogryposis, microcephaly, and facial dysmorphisms, and those of mitochondrial complex I deficiency, including high serum lactate levels and lethal apnea resulting in a severe clinical course.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The results imply that ES in combination with RNA\u2010seq could be a powerful method for the detection of underlying factors responsible for rare genetic conditions, such as UPD.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70037","type":"journal-article","created":{"date-parts":[[2024,12,2]],"date-time":"2024-12-02T17:40:51Z","timestamp":1733161251000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Homozygous Microdeletion Involving Exon 1 of <scp><i>ERCC8<\/i><\/scp> and <scp><i>NDUFAF2<\/i><\/scp> With Uniparental Isodisomy of Chromosome 5"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6001-6395","authenticated-orcid":false,"given":"Kaori","family":"Yamoto","sequence":"first","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kosuke","family":"Yamada","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics and Cytogenetics Shizuoka Children's Hospital  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Shimizu","sequence":"additional","affiliation":[{"name":"Division of Clinical Genetics and Cytogenetics Shizuoka Children's Hospital  Shizuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2124-4795","authenticated-orcid":false,"given":"Sachiko","family":"Miyamoto","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7941-1774","authenticated-orcid":false,"given":"Mitsuko","family":"Nakashima","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0723-0960","authenticated-orcid":false,"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[{"name":"Department of Biochemistry Hamamatsu University School of Medicine  Hamamatsu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,12,2]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03094-0"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2017-104877"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-022-02257-1"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060207"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.08.005"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp276"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.3390\/life11050455"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038\u2010023\u201001211\u20108"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mad.2013.02.006"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.057141"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btu401"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/ahg.12507"},{"key":"e_1_2_11_14_1","first-page":"184","article-title":"Accurate and Exact CNV Identification From Targeted High\u2010Throughput Sequence Data","volume":"12","author":"Nord A. 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