Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome

被引：0

作者：

Huh, Rimm ^{[1
]}

Cho, Sung Yoon ^{[1
]}

Kim, Jinsup ^{[1
]}

Ki, Chang-Seok ^{[2
]}

Jin, Dong-Kyu ^{[1
]}

机构：

[1] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Pediat, Seoul 135710, South Korea

[2] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Lab Med & Genet, Seoul 135710, South Korea

来源：

ANNALS OF CLINICAL AND LABORATORY SCIENCE | 2015年 / 45卷 / 04期

关键词：

Rubinstein-Taybi syndrome; CREBBP; growth hormone deficiency; Hirschsprung disease; MICRODELETION; INHERITANCE; PATIENT; DEFECT;

D O I：

暂无

中图分类号：

R446 [实验室诊断]; R-33 [实验医学、医学实验];

学科分类号：

1001 ;

摘要：

Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, mental retardation, and short stature. Mutations in the cAMP-response element binding protein-BP (CREBBP) gene (50-60% of cases) and E1A-binding protein (EP300, 3%) are known genetic causes in affected individuals. Here, we describe a genetically confirmed Korean RTS patient with atypical features, including Hirschsprung disease and growth hormone deficiency. Mutational analysis revealed a novel heterozygous frameshift mutation, c.2064_2077del14 (p.Gly689Cysfs*32) in the CREBBP gene.

引用

页码：458 / 461

页数：4

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