A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

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.

Figure 2 from A case of Rubinstein-Taybi Syndrome with a CREB

Case report: a Chinese girl like atypical Rubinstein–Taybi

Case report: a Chinese girl like atypical Rubinstein–Taybi

PDF] Chromosome 16p13.3 Contiguous Gene Deletion Syndrome

PDF) Molecular studies in 10 cases of Rubinstein-Taybi syndrome

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First case report of inherited Rubinstein-Taybi syndrome

A novel CREBBP mutation and its phenotype in a case of Rubinstein

Characterization of 14 novel deletions underlying Rubinstein–Taybi

High frequency of copy number imbalances in Rubinstein–Taybi

Mutation spectrum of CREBBP and EP300 in RSTS individuals

PDF] Chromosome 16p13.3 Contiguous Gene Deletion Syndrome

IJMS, Free Full-Text