A case with Rubinstein-Taybi syndrome: A novel frameshift mutation

A novel frameshift mutation which is led to premature stop codon in CREBBP gene, c.2057dupC, reported in this paper enlarges the molecular spectrum of disease-causing CRE BBP gene. Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a wide spectrum of multiple congenital anomalies and cognitive impairment. RSTS is primarily due to mutations in CREBBP (approximately 55% of cases) or EP300 (approximately 8% of cases) genes. A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad nasal bridge, triangular mouth and pointed chin and skeletal finding including broad great thumbs and halluces, and accessory nipple. With this paper, we reported a novel frameshift mutation which is led to premature stop codon in CREBBP gene. As a result, c.2057dupC, reported in this paper enlarges the molecular spectrum of disease-causing CREBBP gene.

rubinstein-taybi syndrome - List of Frontiers' open access articles

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH

Photographs of patient face, hands, and feet described with CREBBP

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics

PDF] Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy

Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

PDF) Lacrimal drainage anomalies in Rubinstein-Taybi syndrome: case report and review of literature

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics