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Abstract #104983 Published in IGR 23-2
A novel CREBBP mutation and its phenotype in a case of Rubinstein-Taybi syndrome
Wang Q; Wang C; Wei WB; Rong WN; Shi XYBMC Medical Genomics 2022; 15: 182
BACKGROUND: This study was to report a novel CREBBP mutation and phenotype in a child with Rubinstein-Taybi syndrome. METHODS: Case report of a 9-year-old boy. RESULTS: We described the patient's clinical manifestations in detail, and found that in addition to the typical systemic manifestations of the syndrome, the outstanding manifestation of the child was severe intellectual deficiency and prominent ocular abnormalities. Whole-exome sequencing and sanger sequencing were performed on the patient and his parents, a large intragenic deletion, covering the exon 1 region and part of the intron 1 region of the TRAP1 gene, and the entire region from intron 27 to exon 30 of the CREBBP gene (chr16:3745393-3783894) was identified on the patient. This mutation affected the CREBBP histone acetyltransferase (HAT) domain. CONCLUSIONS: This findings in our patient add to the spectrum of genetic variants described in Rubinstein-Taybi syndrome and present a RSTS patient with various ocular anomalies including early onset glaucoma.
Beijing Key Laboratory of Intraocular Tumor Diagnosis and Treatment, Beijing Ophthalmology and Visual Sciences Key Lab, Medical Artificial Intelligence Research and Verification Laboratory of the Ministry of Industry and Information Technology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, 1 Dong Jiao Min Xiang, Beijing, 100730, China.
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