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Additional features may include hypotonia, behavioral abnormalities, ophthalmic abnormalities, hearing loss, sleep apnea, microcephaly, dysmorphic facial features, and rarely, congenital diaphragmatic hernia (CDH). We present a 6\u2010year\u2010old female with features of WHSUS, including CDH, but with nondiagnostic clinical trio exome sequencing. Exome sequencing reanalysis revealed a heterozygous, de novo, intronic variant in <jats:italic>POGZ<\/jats:italic> (NM_015100.3:c.2546\u201020T&gt;A). RNA sequencing revealed that this intronic variant leads to skipping of exon 18. This exon skipping event results in a frameshift with a predicted premature stop codon in the last exon and escape from nonsense\u2010mediated mRNA decay (NMD). To our knowledge, this case is the first case of WHSUS caused by a de novo, intronic variant that is not near a canonical splice site within <jats:italic>POGZ<\/jats:italic>. These findings emphasize the limitations of standard clinical exome filtering algorithms and the importance of research reanalysis of exome data together with RNA sequencing to confirm a suspected diagnosis of WHSUS. As the sixth reported case of CDH with heterozygous pathogenic variants in <jats:italic>POGZ<\/jats:italic> and features consistent with WHSUS, this report supports the conclusion that WHSUS should be considered in the differential diagnosis for patients with syndromic CDH.<\/jats:p>","DOI":"10.1002\/ajmg.a.62747","type":"journal-article","created":{"date-parts":[[2022,4,9]],"date-time":"2022-04-09T09:48:41Z","timestamp":1649497721000},"page":"2198-2203","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A novel, de novo intronic variant in <scp><i>POGZ<\/i><\/scp> causes <scp>White\u2013Sutton<\/scp> syndrome"],"prefix":"10.1002","volume":"188","author":[{"given":"Ashanta","family":"Merriweather","sequence":"first","affiliation":[{"name":"Meharry Medical College  Nashville Tennessee USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David 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