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.

PDF) Rubinstein-Taybi syndrome medical guidelines

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian

Mutation spectrum of CREBBP and EP300 in RSTS individuals

Analysis of mutations within the intron20 splice donor site of

Epigenetic Mechanisms of Rubinstein–Taybi Syndrome

Rubinstein–Taybi syndrome: clinical and molecular overview

PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

New insights into genetic variant spectrum and genotype–phenotype

IJMS, Free Full-Text

Exon deletions of the EP300 and CREBBP genes in two children with

High frequency of mosaic CREBBP deletions in Rubinstein–Taybi