{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T00:27:07Z","timestamp":1790036827646,"version":"4.0.1"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,10,29]],"date-time":"2013-10-29T00:00:00Z","timestamp":1383004800000},"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":[[2014,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>The disorder comprising <jats:italic>M<\/jats:italic>acrocephaly, <jats:italic>A<\/jats:italic>lopecia, <jats:italic>C<\/jats:italic>utis laxa, and <jats:italic>S<\/jats:italic>coliosis has been designated MACS syndrome. It is a rare condition, inherited in an autosomal recessive pattern. Three families from different ethnic origins have so far been reported and were all linked to homozygous mutations in <jats:italic>RIN2<\/jats:italic>, a gene encoding the Ras and Rab interactor 2 protein involved in cell trafficking. We describe herein the fourth family with MACS syndrome in two siblings carrying a novel homozygous mutation, c.1878_1879insC in exon 8 of the <jats:italic>RIN2<\/jats:italic> gene, which predicts p.Ile627Hisfs*7. We also report on additional findings not previously described in MACS syndrome, including bronchiectasis and hypergonadotropic hypogonadism. Finally, our overall data support the argument that RIN2 syndrome is a more appropriate name for the disorder. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36277","type":"journal-article","created":{"date-parts":[[2013,10,29]],"date-time":"2013-10-29T17:27:25Z","timestamp":1383067645000},"page":"484-489","source":"Crossref","is-referenced-by-count":14,"title":["Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2"],"prefix":"10.1002","volume":"164","author":[{"given":"Ayca D.","family":"Aslanger","sequence":"first","affiliation":[{"name":"Medical Genetics Unit Kocaeli Derince Research and Education Hospital Kocaeli Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Umut","family":"Altunoglu","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Istanbul Medical Faculty Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emre","family":"Aslanger","sequence":"additional","affiliation":[{"name":"Cardiology Unit Kocaeli G\u00f6lc\u00fck State Hospital Kocaeli Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bilge N.","family":"Satk\u0131n","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Istanbul Medical Faculty Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zehra Oya","family":"Uyguner","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Istanbul Medical Faculty Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H\u00fclya","family":"Kayserili","sequence":"additional","affiliation":[{"name":"Medical Genetics Department Istanbul Medical Faculty Istanbul University Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,10,29]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33712"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.07.001"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970110)68:1<25::AID-AJMG5>3.0.CO;2-X"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ccm.2012.03.002"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.10019"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-011-9305-9"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M106276200"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.03.023"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0829-0"},{"key":"e_1_2_7_11_1","unstructured":"VerloesA BenmansourA MortierG PierardGE Le MerrerM.2005.A new recessive connective tissue disorder with fleshy swelling of lips lid and cheeks macrocephaly hyperextensible skin and severe scoliosis. 55th Annual Meeting. 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