Newly Described Clinical Features in Two Siblings With MACS Syndrome and a Novel Mutation in RIN2

Aslanger A. D., Altunoglu U., Aslanger E., Satkin B. N., Uyguner Z. O., Kayserili H.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.164, sa.2, ss.484-489, 2014 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 164 Sayı: 2
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1002/ajmg.a.36277
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.484-489
  • İstanbul Üniversitesi Adresli: Evet

Özet

The disorder comprising Macrocephaly, Alopecia, Cutis laxa, and Scoliosis 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 RIN2, 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 RIN2 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. (c) 2013 Wiley Periodicals, Inc.