Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome

Koji Masuda, Kazuhiro Akiyama, Michiko Arakawa, Eriko Nishi, Noritaka Kitazawa, Tsukasa Higuchi, Yuki Katou, Katsuhiko Shirahige, Kosuke Izumi

研究成果: Review article査読

10 被引用数 (Scopus)

抄録

Rubinstein-Taybi syndrome (RSTS) is a multisystem developmental disorder characterized by facial dysmorphisms, broad thumbs and halluces, growth retardation, and intellectual disability. In about 8% of RSTS cases, mutations are found in EP300. Previously, the EP300 mutation has been shown to cause the highly variable RSTS phenotype. Using exome sequencing, we identified a de novo EP300 frameshift mutation in a proband with coloboma, facial asymmetry and imperforate anus with minimal RSTS features. Previous molecular studies have demonstrated the importance of EP300 in oculogenesis, supporting the possibility that EP300 mutation may cause ocular coloboma. Since a wide phenotypic spectrum is well known in EP300-associated RSTS cases, the atypical phenotype identified in our proband may be an example of rare manifestations of RSTS.

本文言語English
ページ(範囲)99-103
ページ数5
ジャーナルMolecular Syndromology
6
2
DOI
出版ステータスPublished - 2015 7 25
外部発表はい

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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