{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T23:07:57Z","timestamp":1785798477522,"version":"3.56.0"},"reference-count":29,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,1,3]],"date-time":"2023-01-03T00:00:00Z","timestamp":1672704000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2023,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A girl with a unilateral cleft lip, alveolus and palate, tooth agenesis, and mild dysmorphic features, without a specific underlying syndrome diagnosis, was genotypically characterized and phenotypically described. Cleft gene panel analysis, single\u2010nucleotide polymorphism (SNP) array, whole genome sequencing (WGS), whole exome sequencing, and quantitative PCR (Q\u2010PCR) analysis were used as diagnostic tests. SNP array revealed a maternal deletion at 16q24.1, encompassing the cleft candidate gene <jats:italic>USP10<\/jats:italic>. WES revealed an additional de novo Loss\u2010of\u2010Function variant (p.(Asn838fs)) in the Zinc\u2010Finger\u2010Homeobox\u20104 (<jats:italic>ZFHX4<\/jats:italic>) gene. Q\u2010PCR was performed to explore the effect of the ZFHX4 variant and the deletion in 16q24.1. The mRNA expression of a selection of putative target genes involved in orofacial clefting showed a lowered expression of <jats:italic>USP10<\/jats:italic> (52%), <jats:italic>CRISPLD2<\/jats:italic> (31%), and <jats:italic>CRISPLD1<\/jats:italic> (1%) compared to the control. <jats:italic>IRF6<\/jats:italic> showed no difference in gene expression. This case supports <jats:italic>ZFHX4<\/jats:italic> as a novel cleft gene and suggests <jats:italic>USP10<\/jats:italic> may contribute to the etiology of orofacial clefts in humans.<\/jats:p>","DOI":"10.1002\/ajmg.a.63101","type":"journal-article","created":{"date-parts":[[2023,1,3]],"date-time":"2023-01-03T17:39:41Z","timestamp":1672767581000},"page":"1083-1088","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Concurrent de novo <scp>ZFHX4<\/scp> variant and 16q24.1 deletion in a patient with orofacial clefting; a potential role of <scp>ZFHX4<\/scp> and <scp>USP10<\/scp>"],"prefix":"10.1002","volume":"191","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7007-182X","authenticated-orcid":false,"given":"Marijn","family":"Cr\u00e9ton","sequence":"first","affiliation":[{"name":"Department of Dentistry \u2013 Orthodontics and Craniofacial Biology Radboud University Medical Centre  Nijmegen The 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