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XPD is encoded by the excision repair cross\u2010complementation group 2 gene (<jats:italic>ERCC2<\/jats:italic>). Only three patients with cerebro\u2010oculo\u2010facio\u2010skeletal syndrome (COFS), caused by mutations in <jats:italic>ERCC2<\/jats:italic>, have been published so far. This report describes a boy with the homozygous amino acid change p.Gly47Arg in XPD. He presented with profound microcephaly, psychomotor retardation, failure to thrive, cutaneous photosensitivity, a bilateral hearing deficit and optic atrophy, thrombocytopenia, and recurrent episodes of pneumonia. We report the first homozygous occurrence of the pathogenic variant Gly47Arg in the <jats:italic>ERCC2<\/jats:italic> gene. Occurring homozygous, this variant was associated with COFS syndrome, leading to early death of the patient at the age of 21\u2009months.<\/jats:p>","DOI":"10.1002\/ajmg.a.62048","type":"journal-article","created":{"date-parts":[[2020,12,28]],"date-time":"2020-12-28T06:42:33Z","timestamp":1609137753000},"page":"930-936","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp>Cerebro\u2010oculo\u2010facio\u2010skeletal<\/scp> syndrome caused by the homozygous pathogenic variant <scp>Gly47Arg<\/scp> in <scp><i>ERCC2<\/i><\/scp>"],"prefix":"10.1002","volume":"185","author":[{"given":"Janine","family":"Reunert","sequence":"first","affiliation":[{"name":"Universit\u00e4tsklinikum M\u00fcnster, Klinik f\u00fcr Kinder und Jugendmedizin  M\u00fcnster Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alijda","family":"van den 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