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Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2
Author(s) -
Aslanger Ayca D.,
Altunoglu Umut,
Aslanger Emre,
Satkın Bilge N.,
Uyguner Zehra Oya,
Kayserili Hülya
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36277
Subject(s) - genetics , cutis laxa , macrocephaly , mutation , exon , biology , omim : online mendelian inheritance in man , gene , phenotype
The disorder comprising M acrocephaly, A lopecia, C utis laxa, and S 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 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. © 2013 Wiley Periodicals, Inc.