Clinical Genetic Service, Department of Health, Kowloon, Hong Kong.
Am J Med Genet A. 2021 Jan;185(1):267-273. doi: 10.1002/ajmg.a.61922. Epub 2020 Oct 16.
Rubinstein-Taybi syndrome (RSTS, OMIM180849) is a rare autosomal dominant disorder, characterized by distinctive facial features, short stature, broad and often angulated thumbs and halluces, with occasional congenital anomalies. Characteristic facial dysmorphic features include downslanting palpebral fissures, low hanging columella. RSTS is caused by pathogenic variants in two ubiquitously expressed and highly homologous genes, CREBBP (OMIM600140) and EP300 (OMIM*600140). Clinical features were well reported especially in Caucasian ethnicity. We would like to report the clinical phenotype of RSTS in our Chinese population and highlight four novel mutations in CREBBP gene.
鲁宾斯坦-泰比综合征（RSTS，OMIM180849）是一种罕见的常染色体显性遗传疾病，其特征为独特的面部特征、身材矮小、拇指和大脚趾宽且通常呈角状，偶尔伴有先天性异常。典型的面部畸形特征包括下斜的睑裂、悬垂的鼻中隔。RSTS 是由两个广泛表达且高度同源的基因 CREBBP（OMIM600140）和 EP300（OMIM*600140）中的致病性变异引起的。临床特征尤其是在白种人群中已有很好的报道。我们希望报告中国人群中 RSTS 的临床表型，并强调 CREBBP 基因中的四个新突变。
