A clinical characteristics and genetic analysis of a case of Rubinstein-Taybi syndrome with glaucoma.

The aim of this study was to analyze the clinical features of a Rubinstein-Taybi syndrome (RSTS) case with neonatal glaucoma. We also wanted to explore the manifestation of the disease in combination with genotype-phenotype correlation. For DNA extraction we used 2 ml peripheral blood, collected from the child and parents. The extracted genomic DNA was used for clinical exome sequencing. A 38-day old baby boy was diagnosed with congenital glaucoma on the third day after birth with symptoms, including choking milk, feeding difficulties and slow weight gain. He was admitted to the neonatology department because of lung infection. The clinical exome sequencing showed that the child has a c.2368C>T heterozygous mutation in exome 13 in CREBBP (cAMP responsive element binding protein) while his parents have no such mutation. Combining genetic data with the clinical features, this infant was diagnosed with RSTS. This is the first report of RSTS caused by a c. 2368C>T mutation in CREBBP. RSTS is an extremely rare disease with extensive clinical manifestations. It is highly overlapped with other syndromes which makes the diagnosis difficult. RSTS is easy to be missed or misdiagnosed due to the lack of specific clinical manifestations during the neonatal period. Neonatal specialists need to enhance their awareness and recognition of this condition, and use genetic testing as an effective tool in order to finalize their diagnosis.