{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:12:19Z","timestamp":1791353539112,"version":"4.3.1"},"reference-count":16,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2010,6,25]],"date-time":"2010-06-25T00:00:00Z","timestamp":1277424000000},"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":[[2010,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Holoprosencephaly (HPE) is genetically heterogeneous. Variable phenotypic manifestations within families with normal and affected patients have been attributed to the number and type of HPE gene mutations. Environmental agents may also contribute to the severity as well as the requirement of multiple hits. Clinical expression is extremely variable ranging from minor facial signs to complex craniofacial anomalies such as cyclopia. Main genes involved include <jats:italic>SHH<\/jats:italic>, <jats:italic>GLI2<\/jats:italic>, <jats:italic>PTCH1<\/jats:italic>, <jats:italic>TGIF<\/jats:italic>, <jats:italic>ZIC2<\/jats:italic>, <jats:italic>TDGF1<\/jats:italic>, <jats:italic>SIX3<\/jats:italic>; however, several other candidates have been proposed. Recently it was established that the human growth arrest specific gene 1 (<jats:italic>GAS1<\/jats:italic>) is a potential locus for several human craniofacial malformations. Here, we report on four Brazilian patients with GAS1 DNA sequence change who presented variable phenotypical manifestations ranging from classic HPE to HPE\u2010like signs. Two patients had single DNA sequence change in the <jats:italic>GAS1<\/jats:italic> gene, while in other two, an additional mutation in the <jats:italic>SHH<\/jats:italic> gene was observed. Clinical manifestations presented by these patients suggest that <jats:italic>GAS1<\/jats:italic> could be considered a candidate locus for one of the types of human HPE. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33466","type":"journal-article","created":{"date-parts":[[2010,6,26]],"date-time":"2010-06-26T06:53:40Z","timestamp":1277535220000},"page":"1688-1694","source":"Crossref","is-referenced-by-count":55,"title":["Holoprosencephaly and holoprosencephaly\u2010like phenotype and <i>GAS1<\/i> DNA sequence changes: Report of four Brazilian patients"],"prefix":"10.1002","volume":"152A","author":[{"given":"Lucilene Arilho","family":"Ribeiro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rodrigo Gon\u00e7alves","family":"Quiezi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adriana","family":"Nascimento","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia Pereira","family":"Bertolacini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Richieri\u2010Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2010,6,25]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21094"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21016"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0888-7543(05)80388-X"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/76074"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1462399407000440"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.4161\/cc.6.21.4877"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1546307"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.C109.011957"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/344412"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.13.2479"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010722)102:1<1::AID-AJMG1336>3.0.CO;2-U"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31370"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31378"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-009-0628-7"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0070-2153(08)00603-0"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI32032"}],"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.33466","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33466","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T12:54:55Z","timestamp":1696683295000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33466"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6,25]]},"references-count":16,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2010,7]]}},"alternative-id":["10.1002\/ajmg.a.33466"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33466","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,6,25]]}}}