{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T21:11:27Z","timestamp":1760217087309},"reference-count":30,"publisher":"Wiley","issue":"18","license":[{"start":{"date-parts":[[2006,8,4]],"date-time":"2006-08-04T00:00:00Z","timestamp":1154649600000},"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":[[2006,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal dominant Townes\u2013Brocks syndrome (TBS) is characterized by imperforate anus, triphalangeal and supernumerary thumbs, dysplastic ears and sensorineural hearing loss, and may also involve other organ systems. Strong inter\u2010 and intrafamiliar variability is known. Approximately 50% of TBS cases are sporadic and due to de novo mutations in the <jats:italic>SALL1<\/jats:italic> gene. <jats:italic>SALL1<\/jats:italic> encodes a zinc finger protein operating as a transcriptional repressor and localizing to pericentromeric heterochromatin. We traced the parental origin of <jats:italic>SALL1<\/jats:italic> mutations in sporadic TBS by analysis of linkage between <jats:italic>SALL1<\/jats:italic> mutations and exonic or intronic polymorphisms in 16 families with 10 different mutations. Mutations were of paternal origin in 14 of 16 cases (87.5%). Paternal origin was independent of the mutation type. The mean paternal age at conception was 29.9 and the mean maternal age 26.5 years. We conclude that de novo mutations in <jats:italic>SALL1<\/jats:italic> mostly occur on the paternally derived chromosome 16 without an obvious age effect. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31383","type":"journal-article","created":{"date-parts":[[2006,8,5]],"date-time":"2006-08-05T02:23:41Z","timestamp":1154744621000},"page":"1904-1908","source":"Crossref","is-referenced-by-count":14,"title":["<i>SALL1<\/i> mutations in sporadic Townes\u2013Brocks syndrome are of predominantly paternal origin without obvious paternal age effect"],"prefix":"10.1002","volume":"140A","author":[{"given":"Johann","family":"B\u00f6hm","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susanne","family":"Munk\u2010Schulenburg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephanie","family":"Felscher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen","family":"Kohlhase","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,8,4]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.4.303"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9396"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9362"},{"key":"e_1_2_5_5_1","first-page":"1076","article-title":"Parent\u2010of\u2010origin effects in multiple endocrine neoplasia type 2B","volume":"55","author":"Carlson K","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/35049558"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/302831"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/378419"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1085710"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0500267102"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80709-8"},{"key":"e_1_2_5_12_1","first-page":"152","article-title":"Germ\u2010line origins of mutation in families with hemophilia B: The sex ratio varies with the type of mutation","volume":"52","author":"Ketterling RP","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100480000088"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/1098-1004(200012)16:6<460::AID-HUMU2>3.0.CO;2-4"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1996.0631"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-81"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1159\/000015206"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/302238"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.11.e127"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050287"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddg233"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0596-48"},{"key":"e_1_2_5_24_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.16.3105"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(55)92305-9"},{"key":"e_1_2_5_26_1","first-page":"233","article-title":"Prevalence and parental origin of de novo RET mutations in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma. 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