{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T04:16:41Z","timestamp":1789705001470,"version":"4.0.1"},"reference-count":25,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,3,26]],"date-time":"2013-03-26T00:00:00Z","timestamp":1364256000000},"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":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Polyalanine repeat expansion diseases are hypothesized to result from unequal chromosomal recombination, yet mechanistic studies are lacking. We identified two de novo cases of hand\u2010foot\u2010genital syndrome (HFGS) associated with polyalanine expansions in <jats:italic>HOXA13<\/jats:italic> that afforded rare opportunities to investigate the mechanism. The first patient with HFGS was heterozygous for a de novo nine codon polyalanine expansion. Haplotype investigation showed that the expansion arose on the maternally inherited chromosome but not through unequal crossing over between homologs, leaving unequal sister chromatid exchange during mitosis or meiosis or slipped mispairing as possible explanations. The asymptomatic father of the second patient with HFGS was mosaic for a six codon polyalanine expansion. Multiple tissue PCR and clonal analysis of paternal fibroblasts showed only expansion\/WT and WT\/WT clones, and haplotype data showed that two unaffected offspring inherited the same paternal allele without the expansion, supporting a postzygotic origin. Absence of the contracted allele in the mosaic father does not support sister chromatid exchange in the origin of the expansion. Mosaicism for <jats:italic>HOXA13<\/jats:italic> polyalanine expansions may be associated with a normal phenotype, making examination of parental DNA essential in apparently de novo HFGS cases to predict accurate recurrence risks. We could not find an example in the literature where unequal sister chromatid exchange has been proven for any polyalanine expansion, suggesting that the principal mechanism for polyalanine expansions (and contractions) is slipped mispairing without repair or that the true frequency of unequal sister chromatid exchange involving these repeats is low. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35843","type":"journal-article","created":{"date-parts":[[2013,3,27]],"date-time":"2013-03-27T04:14:16Z","timestamp":1364357656000},"page":"1019-1027","source":"Crossref","is-referenced-by-count":10,"title":["Analysis of De Novo <scp><i>HOXA<\/i><\/scp><i>13<\/i> Polyalanine Expansions Supports Replication Slippage Without Repair in Their Generation"],"prefix":"10.1002","volume":"161","author":[{"given":"Kailey M.","family":"Owens","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Communicable Diseases University of Michigan Ann Arbor, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shane C.","family":"Quinonez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Communicable Diseases University of Michigan Ann Arbor, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peedikayil E.","family":"Thomas","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Michigan Ann Arbor, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine E.","family":"Keegan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Communicable Diseases University of Michigan Ann Arbor, Michigan"},{"name":"Department of Human Genetics University of Michigan Ann Arbor, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nanci","family":"Lefebvre","sequence":"additional","affiliation":[{"name":"Department of Pathology Cytogenetics Laboratory, University of Michigan Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diane","family":"Roulston","sequence":"additional","affiliation":[{"name":"Department of Pathology Cytogenetics Laboratory, University of Michigan Ann Arbor Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine A.","family":"Larsen","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics Oregon Health Sciences University and Shriners Hospital for Children Portland, Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. Scott","family":"Stadler","sequence":"additional","affiliation":[{"name":"Department of Molecular and Medical Genetics Oregon Health Sciences University and Shriners Hospital for Children Portland, Oregon"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey W.","family":"Innis","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Communicable Diseases University of Michigan Ann Arbor, Michigan"},{"name":"Department of Human Genetics University of Michigan Ann Arbor, Michigan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,3,26]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-007-0197-3"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds064"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2003.11.002"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20133"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.109.104695"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.3577405"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/302961"},{"key":"e_1_2_8_9_1","volume-title":"GeneReviews [Internet]","author":"Innis JW","year":"2006"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh306"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.11.037"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1525-142X.2008.00254.x"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg2828"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0297-179"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0796-284"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/s003350010029"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9516"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1689"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000073"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.128.21.4177"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/365274a0"},{"key":"e_1_2_8_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81846-2"},{"key":"e_1_2_8_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20562"},{"key":"e_1_2_8_24_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.124.23.4781"},{"key":"e_1_2_8_25_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.275.5298.408"},{"key":"e_1_2_8_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2004.10.004"}],"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.35843","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35843","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,30]],"date-time":"2023-10-30T01:31:07Z","timestamp":1698629467000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35843"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3,26]]},"references-count":25,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2013,5]]}},"alternative-id":["10.1002\/ajmg.a.35843"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35843","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,3,26]]}}}