{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,14]],"date-time":"2026-01-14T21:04:27Z","timestamp":1768424667837,"version":"3.49.0"},"reference-count":23,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,9,16]],"date-time":"2015-09-16T00:00:00Z","timestamp":1442361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000092","name":"Ontario Genomics Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000092","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:sec><jats:label\/><jats:p>PDAC (also termed Matthew Wood) syndrome is a rare, autosomal recessive disorder characterized by <jats:styled-content>p<\/jats:styled-content>ulmonary hypoplasia\/aplasia, <jats:styled-content>d<\/jats:styled-content>iaphragmatic defects, bilateral <jats:styled-content>a<\/jats:styled-content>nophthalmia, and cardiac malformations. The disorder is caused by mutations in <jats:italic>STRA6<\/jats:italic>, an important regulator of vitamin A and retinoic acid metabolism. We describe six cases from four families of Hmong ancestry, seen over a 30 years period in California. These include: (i) consanguineous siblings with a combination of bilateral anophthalmia, diaphragmatic abnormalities, truncus arteriosus, and\/or pulmonary agenesis\/hypoplasia; (ii) a singleton fetus with bilateral anophthalmia, pulmonary agenesis, cardiac malformation, and renal hypoplasia; (iii) a sibling pair with a combination of antenatal contractures, camptodactyly, fused palpebral fissures, pulmonary agenesis, and\/or truncus arteriosus; (iv) a fetus with bilateral anophthalmia, bushy eyebrows, pulmonary agenesis, heart malformation, and abnormal hand positioning. The phenotypic spectrum of PDAC syndrome has until now not included contractures or camptodactyly. Sequencing of <jats:italic>STRA6<\/jats:italic> in unrelated members of families three and four identified a novel, shared homozygous splice site alteration (c.113\u2009+\u20093_4delAA) that is predicted to be pathogenic. We hypothesize this may represent a unique disease allele in the Hmong. We also provide a focused review of all published PDAC syndrome cases with confirmed or inferred <jats:italic>STRA6<\/jats:italic> mutations, illustrating the phenotypic and molecular variability that characterizes this disorder. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37389","type":"journal-article","created":{"date-parts":[[2015,9,16]],"date-time":"2015-09-16T03:49:38Z","timestamp":1442375378000},"page":"11-18","source":"Crossref","is-referenced-by-count":20,"title":["A novel mutation in two Hmong families broadens the range of <i>STRA6<\/i>\u2010related malformations to include contractures and camptodactyly"],"prefix":"10.1002","volume":"170","author":[{"given":"Julien L.","family":"Marcadier","sequence":"first","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alan J.","family":"Mears","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth A.","family":"Woods","sequence":"additional","affiliation":[{"name":"Community Perinatology Medical Group Fresno California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jamie","family":"Fisher","sequence":"additional","affiliation":[{"name":"Genetic Medicine Central California Fresno California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cory","family":"Airheart","sequence":"additional","affiliation":[{"name":"Community Perinatology Medical Group Fresno California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wen","family":"Qin","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chandree L.","family":"Beaulieu","sequence":"additional","affiliation":[{"name":"Children's Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David A.","family":"Dyment","sequence":"additional","affiliation":[{"name":"Department of Genetics Children's Hospital of Eastern Ontario Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. Micheil","family":"Innes","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Alberta Children's Hospital Research Institute for Child and Maternal Health University of Calgary Calgary Alberta Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia J.","family":"Curry","sequence":"additional","affiliation":[{"name":"Genetic Medicine Central California Fresno California"},{"name":"Department of Pediatrics University of California San Francisco California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"Care4Rare Canada Consortium","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,9,16]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2010.04.014"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddu258"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0098-2997(03)00039-6"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4773(97)00039-7"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.crvi.2012.10.003"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-213X-14-10"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21590"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21023"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01904.x"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.2"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/518177"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1136244"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30129"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1215458"},{"key":"e_1_2_7_16_1","first-page":"571","article-title":"Ethnic\u2010sensitive work with Hmong refugee children","volume":"70","author":"McInnis K","year":"1991","journal-title":"Child Welfare"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01851.x"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/512203"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.02.009"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33038"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.08.014"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-013-1358-4"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32682"},{"key":"e_1_2_7_24_1","first-page":"2458","article-title":"Identification of STRA6 and SKI sequence variants in patients with anophthalmia\/microphthalmia","volume":"14","author":"White T","year":"2008","journal-title":"Mol Vis"}],"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.37389","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37389","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T00:47:21Z","timestamp":1696553241000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37389"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9,16]]},"references-count":23,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,1]]}},"alternative-id":["10.1002\/ajmg.a.37389"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37389","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,9,16]]}}}