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, cilt.20, ss.255-260, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 20 Konu: 3
  • Basım Tarihi: 2009
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayısı: ss.255-260

Özet

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.