RUBINSTEIN-TAYBI SYNDROME AND CREBBP c.201_202delTA MUTATION: A CASE PRESENTING WITH VARICELLA MENINGOENCEPHALITIS


Caksen H., Bartsch O., Okur M., Temel H., Acikgoz M., Yilmaz C.

GENETIC COUNSELING, vol.20, no.3, pp.255-260, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 20 Issue: 3
  • Publication Date: 2009
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.255-260
  • Van Yüzüncü Yıl University Affiliated: Yes

Abstract

Rubinstein-Taybi syndrome and CREBBP c.201_202delTA mutation: A case presenting with varicella meningoencephalitis: Rubinstein-Taybi syndrome (RTS) is a rare syndrome with a frequency of approximately 1 in 125,000 affected newborns, which is characterized by mental retardation, growth retardation, a particular dysmorphology and, in a subset of cases, immunodeficiency. RTS is typically caused by CREBBP deficiency, and heterozygous mutation or deletion of the CREBBP gene has been identified in 60-70% of patients. The inheritance is autosomal dominant but reports of vertical transmission are exceedingly rare; near-all cases are caused by de novo mutations. Here we present an 8-month-old boy with varicella meningoencephalitis, RTS, and a de novo deletion of the CREBBP gene of two base pairs at position 201-202 in exon 2, c. 201_202derr. The mutation has not been described previously but it predicts a protein truncation, and truncating CREBBP mutations are typical causes of RTS.