{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:50:12Z","timestamp":1790833812865,"version":"4.1.0"},"reference-count":38,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2007,6,21]],"date-time":"2007-06-21T00:00:00Z","timestamp":1182384000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2007,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p><jats:bold>BACKGROUND:<\/jats:bold> Single median maxillary central incisor (SMMCI) is a rare anomaly that may occur alone or associated with other conditions, frequently as part of the holoprosencephaly (HPE) spectrum. However, it has been suggested that SMMCI alone, or associated with some midline defects, may be considered a different entity from HPE (OMIM: 147250). Families with SMMCI, without HPE cases, are difficult to counsel for the risk of HPE in future generations because the same midline defects described as part of the \u201cSMMCI syndrome\u201d can also be part of the HPE spectrum. <jats:bold>METHODS:<\/jats:bold> We screened five cases of SMMCI for mutations in three HPE genes, <jats:italic>SHH<\/jats:italic>, <jats:italic>TGIF,<\/jats:italic> and <jats:italic>SIX3<\/jats:italic>. <jats:bold>RESULTS:<\/jats:bold> A missense mutation c.686C&gt;T was found in the gene <jats:italic>SIX3<\/jats:italic> of one patient, which did not differ from the accepted 20% of known HPE gene mutations among all HPE cases. Our results and an extensive literature review of gene mutations in patients with SMMCI showed that 27\/28 of them were in HPE genes: <jats:italic>SHH<\/jats:italic> (<jats:italic>n<\/jats:italic> = 21), <jats:italic>SIX3<\/jats:italic> (<jats:italic>n<\/jats:italic> = 3), <jats:italic>TGIF<\/jats:italic> (<jats:italic>n<\/jats:italic> = 1), <jats:italic>GLI2<\/jats:italic> (<jats:italic>n<\/jats:italic> = 1), and <jats:italic>PTCH<\/jats:italic> (<jats:italic>n<\/jats:italic> = 1), and only one in the <jats:italic>SALL4<\/jats:italic> gene. <jats:bold>CONCLUSIONS:<\/jats:bold> The clinical findings in patients with SMMCI without HPE in families with mutations in HPE genes cannot be distinguished from the findings reported in the SMMCI syndrome. Therefore, persons with SMMCI and their relatives should be carefully investigated for related midline disorders, especially of the HPE spectrum, and all known HPE genes screened. Birth Defects Research (Part A), 2007. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/bdra.20380","type":"journal-article","created":{"date-parts":[[2007,6,21]],"date-time":"2007-06-21T21:40:28Z","timestamp":1182462028000},"page":"573-580","source":"Crossref","is-referenced-by-count":34,"title":["Single median maxillary central incisor: New data and mutation review"],"prefix":"10.1002","volume":"79","author":[{"given":"K\u00eania B.","family":"El\u2010Jaick","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata F.","family":"Fonseca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel A.","family":"Moreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00e1rcia G.","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana 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