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: Most Up-to-Date Encyclopedia, News & Reviews

Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome

novel frameshift mutation - List of Frontiers' open access articles

PDF) A case of Rubinstein-Taybi Syndrome with a CREBbinding protein gene mutation

Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF

Microdeletions and mutations of CREBBP (CBP) gene can cause

Expanding the phenotypic spectrum in EP300‐related Rubinstein–Taybi syndrome - Solomon - 2015 - American Journal of Medical Genetics Part A - Wiley Online Library

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

a) Broad and radially angulated thumbs. (b) Broad halluces. (c)

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PDF) Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: A case report

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

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

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