Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2. Issue 2 (29th October 2013)

• Record Type: Journal Article
• Authors: Aslanger, Ayca D.; Altunoglu, Umut; Aslanger, Emre; Satkın, Bilge N.; Uyguner, Zehra Oya; Kayserili, Hülya
• Is Part Of: American journal of medical genetics. Volume 164:Issue 2(2014.)
• Page Start: 484
• Page End: 489
• Publication Date: 2013-10-29
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36277
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>ABSTRACT</title> <sec id="ajmga36277-sec-0001" sec-type="section"> <p>The disorder comprising <italic>M</italic>acrocephaly, <italic>A</italic>lopecia, <italic>C</italic>utis laxa, and <italic>S</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 <italic>RIN2</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 <italic>RIN2</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. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>