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 202delT. The mutation has not been described previously but it predicts a protein truncation, and truncating CREBBP mutations are typical causes of RTS.
Çaksen
H
H
Department of Pediatrics, Yüzüncü Yil University, Faculty of Medicine, Van, Turkey. huseyincaksen@hotmail.com
Bartsch
O
O
Okur
M
M
Temel
H
H
Açikgoz
M
M
Yilmaz
C
C
D020029:Base Pairing; D050882:CREB-Binding Protein / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D050881:E1A-Associated p300 Protein / Q000235:genetics; D020804:Encephalitis, Varicella Zoster / Q000175:diagnosis / Q000235:genetics*; D005091:Exons; D006580:Genetic Carrier Screening; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D012415:Rubinstein-Taybi Syndrome / Q000175:diagnosis / Q000235:genetics*
D050882:CREB-Binding Protein; C494363:CREBBP protein, human; D050881:E1A-Associated p300 Protein; C494360:EP300 protein, human