{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T01:36:25Z","timestamp":1790386585537,"version":"4.1.0"},"reference-count":54,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2006,5,11]],"date-time":"2006-05-11T00:00:00Z","timestamp":1147305600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Split\u2010hand\/split\u2010foot malformation (SHFM, also called ectrodactyly) is a clinically variable and genetically heterogeneous group of limb malformations. Several SHFM loci have been mapped, including\n                    <jats:italic>SHFM1<\/jats:italic>\n                    (7q21),\n                    <jats:italic>SHFM2<\/jats:italic>\n                    (Xq26),\n                    <jats:italic>SHFM3<\/jats:italic>\n                    (10q24),\n                    <jats:italic>SHFM4<\/jats:italic>\n                    (3q27) and\n                    <jats:italic>SHFM5<\/jats:italic>\n                    (2q31). To date, mutations in a gene (\n                    <jats:italic>TP63<\/jats:italic>\n                    ) have only been identified for SHFM4. SHFM3 has been shown by pulsed\u2010field gel electrophoresis to be caused by an \u223c500 kb DNA rearrangement at 10q24. This region contains a number of candidate genes for SHFM3, though which gene(s) is (are) involved in the pathogenesis of SHFM3 is not known. Our aim in this study was to improve the diagnosis of SHFM3, and to begin to understand which genes are involved in SHFM3. Here we show, using two different techniques, FISH and quantitative PCR that SHFM3 is caused by a minimal 325 kb duplication containing only two genes (\n                    <jats:italic>BTRC<\/jats:italic>\n                    and\n                    <jats:italic>POLL<\/jats:italic>\n                    ). The data presented provide improved methods for diagnosis and begin to elucidate the pathogenic mechanism of SHFM3. Expression analysis of 13 candidate genes within and flanking the duplicated region shows that\n                    <jats:italic>BTRC<\/jats:italic>\n                    (present in three copies) and\n                    <jats:italic>SUFU<\/jats:italic>\n                    (present in two copies) are overexpressed in SHFM3 patients compared to controls. Our data suggest that SHFM3 may be caused by overexpression of\n                    <jats:italic>BTRC<\/jats:italic>\n                    and\n                    <jats:italic>SUFU<\/jats:italic>\n                    , both of which are involved in \u03b2\u2010catenin signalling. \u00a9 2006 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.31247","type":"journal-article","created":{"date-parts":[[2006,5,12]],"date-time":"2006-05-12T03:03:45Z","timestamp":1147403025000},"page":"1384-1395","source":"Crossref","is-referenced-by-count":34,"title":["Split\u2010hand\/split\u2010foot malformation 3 (SHFM3) at 10q24, development of rapid diagnostic methods and gene expression from the region"],"prefix":"10.1002","volume":"140A","author":[{"given":"Robert","family":"Lyle","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uppala","family":"Radhakrishna","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Louis","family":"Blouin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarantis","family":"Gagos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David B.","family":"Everman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Corinne","family":"Gehrig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celia","family":"Delozier\u2010Blanchet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jitendra V.","family":"Solanki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uday C.","family":"Patel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swapan K.","family":"Nath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiorella","family":"Gurrieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Neri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles E.","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stylianos E.","family":"Antonarakis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,5,11]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00591081"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1044903"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10778"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/33435"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81646-3"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.jhered.a109486"},{"key":"e_1_2_6_8_1","first-page":"252","article-title":"Faster sequential genetic linkage computations","volume":"53","author":"Cottingham RW","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.1998.8938"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.30.7.593"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg212"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.1.55"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/302467"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg090"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31246"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00230215"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(01)02682-5"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200207000-00006"},{"key":"e_1_2_6_19_1","doi-asserted-by":"crossref","first-page":"427","DOI":"10.1002\/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q","article-title":"A split hand\u2010split foot (SHFM3) gene is located at 10q24\u2009\u2192\u200925","volume":"62","author":"Gurrieri F","year":"1996","journal-title":"Am J Med Genet"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M213265200"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1416"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1086\/302972"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0223(199905)19:5<446::AID-PD566>3.0.CO;2-O"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229202. Article published online before March 2002"},{"key":"e_1_2_6_25_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229102"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1086\/426833"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.11.3443"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng887"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg180"},{"key":"e_1_2_6_30_1","doi-asserted-by":"publisher","DOI":"10.1038\/82609"},{"key":"e_1_2_6_31_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.13.10.1322"},{"key":"e_1_2_6_32_1","doi-asserted-by":"publisher","DOI":"10.1006\/meth.2001.1262"},{"key":"e_1_2_6_33_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.2090904"},{"key":"e_1_2_6_34_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0434590100"},{"key":"e_1_2_6_35_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M105317200"},{"key":"e_1_2_6_36_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.11.2165"},{"key":"e_1_2_6_37_1","doi-asserted-by":"publisher","DOI":"10.1086\/302403"},{"key":"e_1_2_6_38_1","first-page":"615","article-title":"Miropeats: Graphical DNA sequence comparisons","volume":"11","author":"Parsons JD","year":"1995","journal-title":"Comput Appl Biosci"},{"key":"e_1_2_6_39_1","unstructured":"R Development Core Team.2004.R: A language and environment for statistical computing.www.Rproject.org."},{"key":"e_1_2_6_40_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20348"},{"key":"e_1_2_6_41_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature01012"},{"key":"e_1_2_6_42_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1098918"},{"key":"e_1_2_6_43_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970331)69:3<325::AID-AJMG20>3.0.CO;2-S"},{"key":"e_1_2_6_44_1","doi-asserted-by":"publisher","DOI":"10.1086\/431652"},{"key":"e_1_2_6_45_1","doi-asserted-by":"publisher","DOI":"10.1038\/12709"},{"key":"e_1_2_6_46_1","unstructured":"SmitAFA HubleyR GreenP.2004.RepeatMasker Open\u20103.0.www.repeatmasker.org."},{"key":"e_1_2_6_47_1","doi-asserted-by":"publisher","DOI":"10.1186\/1475-4924-1-5"},{"key":"e_1_2_6_48_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)00310-6"},{"key":"e_1_2_6_49_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(02)02592-1"},{"key":"e_1_2_6_50_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature00902"},{"key":"e_1_2_6_51_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2001.590105.x"},{"key":"e_1_2_6_52_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.284.5412.313"},{"key":"e_1_2_6_53_1","volume-title":"The genetics of hand malformations","author":"Temtamy SA","year":"1978"},{"key":"e_1_2_6_54_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2230.2000.00683.x"},{"key":"e_1_2_6_55_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdrc.10026"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31247","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31247","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T02:06:01Z","timestamp":1697076361000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31247"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,5,11]]},"references-count":54,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2006,7]]}},"alternative-id":["10.1002\/ajmg.a.31247"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31247","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,5,11]]}}}