The Turkish Journal of Pediatrics 2017 , Vol 59 , Num 5
A case with Rubinstein–Taybi syndrome: A novel frameshift mutation in the CREBBP gene
Metin Eser 1 ,Akif Ayaz 2 ,Gözde Yeşil 3
1 Department of Medical Genetics, Aydın State Hospital, Aydın, Turkey
2 Department of Medical Genetics, Adana Numune Training and Research Hospital, Adana, Turkey
3 Department of Genetics, Bezmialem Vakıf University, School of Medicine, Istanbul, Turkey
DOI : 10.24953/turkjped.2017.05.017 Eser M, Ayaz A, Yeşil G. A case with Rubinstein–Taybi syndrome: A novel frameshift mutation in the CREBBP gene. Turk J Pediatr 2017; 59: 601-603.

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. Keywords : Rubinstein–Taybi syndrome, CREBBP, c.2057dupC

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