A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Por um escritor misterioso
Descrição
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.
Dysmorphic and skeletal features of Rubinstein‐Taybi syndrome
Exon deletions of the EP300 and CREBBP genes in two children with
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
High frequency of mosaic CREBBP deletions in Rubinstein–Taybi
PDF) Identification of a novel de novo mutation of CREBBP in a
Rubinstein–Taybi syndrome: clinical and molecular overview
Figure 2 from A case of Rubinstein-Taybi Syndrome with a CREB
First case report of inherited Rubinstein-Taybi syndrome
PDF) Novel cAMP binding protein-BP (CREBBP) mutation in a girl
Genes, Free Full-Text
High frequency of copy number imbalances in Rubinstein–Taybi
de
por adulto (o preço varia de acordo com o tamanho do grupo)
