A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene


Eser M., Ayaz A., YEŞİL G.

TURKISH JOURNAL OF PEDIATRICS, vol.59, no.5, pp.601-603, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 59 Issue: 5
  • Publication Date: 2017
  • Doi Number: 10.24953/turkjped.2017.05.017
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.601-603

Abstract

Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a wide spectrum of multiple congenital anomalies and cognitive impairment. RSTS is primarily due to mutations in CREBBP (approximately 55% of cases) or EP300 (approximately 8% of cases) genes. A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad nasal bridge, triangular mouth and pointed chin and skeletal finding including broad great thumbs and halluces, and accessory nipple. With this paper, we reported a novel frameshift mutation which is led to premature stop codon in CREBBP gene. As a result, c.2057dupC, reported in this paper enlarges the molecular spectrum of disease-causing CREBBP gene.