Objective To study the clinical manifestations and genetic characteristics of Rubinstein-Taybi syndrome(RSTS).Methods The clinical data of a child with RSTS who was finally diagnosed by gene detection was retrospectively analyzed,and the relevant literature was reviewed.Results The children,a 1-month-old infant,had the clinical symptoms of suspected RSTS,such as thick hair,capillary malformation in the forehead and neck,binocular abnormalities(appearance:arched thick eyebrow,wide eye distance,epicanthus,exotropia;loss of optic disc and saccular thickening of optic nerve in the eyes),thumb(toe)deformity,etc.the sequencing of the whole exon gene showed that CREBBP(NM_004380)gene had a c.4735C＞T heterozygous mutation,which was a nonsense mutation.This mutation was assessed as a disease by ACMG and has not been reported.Conclusion RSTS is mainly presents with special facial deformities and acromegaly,which is easy to be complicated with ocular retinal dysfunction and increased risk of tumor.CREBBP and EP300 genes are common pathogenic genes,which can be diagnosed with the help of exon gene sequencing.
Rubinstein-Taybi syndromeCREBBPwidth of the thumb(Toe)infant
NETL
NSTL
万方数据
