{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T00:36:29Z","timestamp":1747182989939,"version":"3.40.5"},"reference-count":15,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,8,30]],"date-time":"2019-08-30T00:00:00Z","timestamp":1567123200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Annals of Human Genetics"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations of <jats:italic>MSX1<\/jats:italic> have been associated with nonsyndromic hypodontia. To seek the causal gene mutation sites in a family with nonsyndromic oligodontia, whole\u2010exome sequencing (WES) was performed to seek the causative locus of the family. The candidate mutation was further identified by Sanger sequencing afterward. Two mutations of <jats:italic>MSX1<\/jats:italic> were found both in the proband and her mother. One novel heterozygous missense mutation (c.C667G, p.R223G) of <jats:italic>MSX1<\/jats:italic> inherited from the asymptomatic mother with mosaic mutation was located in the highly conserved fragment of exon 2. The other was a synonymous mutation (c.C348T, p.G116G) in exon 1, which had been reported. The novel maternal heterozygous missense mutation (c.C667G, p.R223G) was likely to be the major reason for nonsyndromic oligodontia in the family. This is the first mosaic variant that has been recorded of the <jats:italic>MSX1<\/jats:italic> gene. Our study expands the phenotype\u2013genotype correlation associated with <jats:italic>MSX1<\/jats:italic> variants. Our study also suggests that the determination of the mosaicism is essential for precise genetic counseling if a disease appears to arise de novo.<\/jats:p>","DOI":"10.1111\/ahg.12348","type":"journal-article","created":{"date-parts":[[2019,8,30]],"date-time":"2019-08-30T13:16:10Z","timestamp":1567170970000},"page":"97-101","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel mutation of <i>MSX1<\/i> inherited from maternal mosaicism causes a severely affected child with nonsyndromic oligodontia"],"prefix":"10.1111","volume":"84","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6159-6405","authenticated-orcid":false,"given":"Tengfei","family":"Ma","sequence":"first","affiliation":[{"name":"Department of Pediatric Dentistry, School and Hospital of Stomatology Tianjin Medical University  Tianjin 300070 People's Republic of 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