{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T10:32:59Z","timestamp":1761561179275},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2007,7,26]],"date-time":"2007-07-26T00:00:00Z","timestamp":1185408000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2007,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>A disruption of sorting nexin 3 (<jats:italic>SNX3<\/jats:italic>) on 6q21 was previously reported in a patient with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and t(6;13)(q21;q12) but no <jats:italic>SNX3<\/jats:italic> mutations were identified in another sporadic case of MMEP, suggesting involvement of another gene. In this work, <jats:italic>SNX3<\/jats:italic> was sequenced in three patients not previously studied for this gene. In addition, we test the hypothesis that mutations in the neighbouring gene <jats:italic>NR2E1<\/jats:italic> may underlie MMEP and related phenotypes.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>Mutation screening was performed in five patients: the t(6;13)(q21;q12) MMEP patient, three additional patients with possible MMEP or a related phenotype, and one patient with oligodactyly, ulnar aplasia, and a t(6;7)(q21;q31.2) translocation. We used sequencing to exclude <jats:italic>SNX3<\/jats:italic> coding mutations in three patients not previously studied for this gene. To test the hypothesis that mutations in <jats:italic>NR2E1<\/jats:italic> may contribute to MMEP or related phenotypes, we sequenced the entire coding region, complete 5' and 3' untranslated regions, consensus splice-sites, and evolutionarily conserved regions including core and proximal promoter in all five patients. Two-hundred and fifty control subjects were genotyped for any candidate mutation.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>We did not detect any synonymous nor nonsynonymous coding mutations of <jats:italic>NR2E1<\/jats:italic> or <jats:italic>SNX3<\/jats:italic>. In one patient with possible MMEP, we identified a candidate regulatory mutation that has been reported previously in a patient with microcephaly but was not found in 250 control subjects examined here.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Our results do not support involvement of coding mutations in <jats:italic>NR2E1<\/jats:italic> or <jats:italic>SNX3<\/jats:italic> in MMEP or related phenotypes; however, we cannot exclude the possibility that regulatory <jats:italic>NR2E1<\/jats:italic> or <jats:italic>SNX3<\/jats:italic> mutations or deletions at this locus may underlie abnormal human cortical development in some patients.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2350-8-48","type":"journal-article","created":{"date-parts":[[2007,8,2]],"date-time":"2007-08-02T18:14:04Z","timestamp":1186078444000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Absence of mutations in NR2E1 and SNX3in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes"],"prefix":"10.1186","volume":"8","author":[{"given":"Ravinesh A","family":"Kumar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David B","family":"Everman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chad T","family":"Morgan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne","family":"Slavotinek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles E","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth M","family":"Simpson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2007,7,26]]},"reference":[{"key":"242_CR1","doi-asserted-by":"publisher","first-page":"R51","DOI":"10.1093\/hmg\/ddg090","volume":"12 Spec No 1","author":"PH Duijf","year":"2003","unstructured":"Duijf PH, van Bokhoven H, Brunner HG: Pathogenesis of split-hand\/split-foot malformation. 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