A Novel Frameshift Mutation (c. 5387_5388insTT) in NIPBL in Cornelia de Lange Syndrome with Severe Phenotype

被引：0

作者：

Kang, Min Jae ^{[1
]}

Ahn, Soo Min ^{[2
]}

Hwang, Il Tae ^{[3
]}

机构：

[1] Hallym Univ, Sacred Heart Hosp, Dept Pediat, Chunchon, Gyeonggi Do, South Korea

[2] Hallym Univ, Sacred Heart Hosp, Dept Surg, Chunchon, Gyeonggi Do, South Korea

[3] Kangdong Sacred Heart Hosp, Dept Pediat, 150 Seongan Ro, Seoul 05355, South Korea

来源：

ANNALS OF CLINICAL AND LABORATORY SCIENCE | 2018年 / 48卷 / 01期

关键词：

Cornelia de Lange syndrome; NIPBL; Frameshift mutation; Korean; BRACHMANN-DELANGE SYNDROME; NIPPED-B; GENOMIC REARRANGEMENTS; COHESIN; INDIVIDUALS; HOMOLOG;

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：

Cornelia de Lange syndrome (CdLS) is a developmental disorder which is characterized by typical facial features, upper extremity malformations, and growth and cognitive delays. The genes involved in CdLS encode the cohesin complex and its associated proteins; and NIPBL mutations, which account for half of the cases, result in severe CdLS phenotypes. We describe a girl with CdLS, presenting with typical facial dysmorphism, cleft palate, hypertrichosis, upper limb hypertonicity, flexion contracture of elbows, micromelia, bilateral hearing loss, gastroesophageal reflux, and severe pyloric stenosis. We detected a heterozygous frameshift mutation in NIPBL (c.5387_5388ins(TT), p.Leu1796Phefs*8) which is a novel mutation.

引用

页码：106 / 109

页数：4

共 23 条

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