{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T13:44:53Z","timestamp":1791121493012,"version":"4.1.0"},"reference-count":26,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2012,8,17]],"date-time":"2012-08-17T00:00:00Z","timestamp":1345161600000},"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":[[2012,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Sonic Hedgehog (SHH) within the posteriorly located zone of polarizing activity is the main controller of the antero\u2010posterior axis of limb development. The ZRS (zone of polarizing activity regulatory sequence) is a long\u2010range limb\u2010specific <jats:italic>SHH<\/jats:italic> enhancer. Several point mutations in the ZRS have been described in humans. These mutations cause enhanced <jats:italic>SHH<\/jats:italic> activity and ectopic anterior expression of <jats:italic>SHH<\/jats:italic> and a variable phenotype of preaxial polydactyly and triphalangeal thumb. Absent thumb or radius has not been reported with ZRS mutations. Here, we report on a family with a variable phenotype of preaxial polydactyly as well as absent thumb and radius, with kidney and cardiac defects. The family was screened for <jats:italic>SALL1<\/jats:italic>, <jats:italic>SALL4<\/jats:italic>, and <jats:italic>TBX5<\/jats:italic> mutations, but all were normal. Finally, they were screened for ZRS mutations, which showed a novel point mutation within the ZRS, NG_009240.1: g.106954C&gt;T (traditional nomenclature: ZRS619C&gt;T) in the five affected members. This mutation was not previously reported in any public domain database, and was not found in our healthy and ethnically matched control individuals or unaffected family members. We hypothesize that interactions of <jats:italic>SHH<\/jats:italic> and <jats:italic>SALL1<\/jats:italic> explain the overlapping features of the family described here and patients with Townes\u2013Brocks syndrome. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35584","type":"journal-article","created":{"date-parts":[[2012,8,17]],"date-time":"2012-08-17T21:32:38Z","timestamp":1345239158000},"page":"2610-2615","source":"Crossref","is-referenced-by-count":37,"title":["A novel mutation in the <i>SHH<\/i> long\u2010range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency"],"prefix":"10.1002","volume":"158A","author":[{"given":"Mohammad M.","family":"Al\u2010Qattan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ibrahim","family":"Al Abdulkareem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yazied","family":"Al Haidan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohammed","family":"Al Balwi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,8,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01465.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2006.07.124"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.225"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2000.9852"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn141"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31563"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.027748"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.055699"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/302238"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1707"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.112212199"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg180"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm370"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1631708"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90626-2"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02457"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2004.04.156"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2009.01192.x"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.057646"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/289295a0"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22535"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21142"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32740"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2007.05.011"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1096049"},{"key":"e_1_2_7_27_1","first-page":"32","article-title":"Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36.J","volume":"36","author":"Zguricas J","year":"1999","journal-title":"Med Genet"}],"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.35584","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35584","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T13:22:32Z","timestamp":1697635352000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35584"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,8,17]]},"references-count":26,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["10.1002\/ajmg.a.35584"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35584","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,8,17]]}}}