A Preterm Infant with Multiple Anomalies Diagnosed with Atypical CHARGE Syndrome after a Novel CHD7 Variant Confirmed Using Whole-Genome Sequencing

被引：0

作者：

Kim, Hyun Ho ^{[1
]}

Kim, Ah Reum ^{[2
,3
]}

Kim, Nayoung K. D. ^{[3
]}

Ahn, So Yoon ^{[1
]}

Sung, Se In ^{[1
]}

Park, Won Soon ^{[1
]}

Lee, Chung ^{[4
]}

Chang, Yun Sil ^{[1
]}

Park, Woong-Yang ^{[3
,5
,6
]}

机构：

[1] Sungkyunkwan Univ, Sch Med, Samsung Med Ctr, Dept Pediat, Seoul 06351, South Korea

[2] Sungkyunkwan Univ, Sch Med, Med Res Inst, Seoul, South Korea

[3] Samsung Med Ctr, Samsung Genome Inst, Seoul, South Korea

[4] GENINUS Inc, Seoul, South Korea

[5] Sungkyunkwan Univ, Samsung Adv Inst Hlth Sci & Technol, Dept Hlth Sci & Technol, Seoul, South Korea

[6] Sungkyunkwan Univ, Sch Med, Dept Mol Cell Biol, Suwon, South Korea

来源：

NEONATOLOGY | 2020年 / 117卷 / 03期

基金：

新加坡国家研究基金会;

关键词：

CHARGE syndrome; Multiple congenital anomalies; Whole-genome sequencing; CHD7; INDIVIDUALS; ASSOCIATION; MUTATIONS; SPECTRUM; HEALTH;

D O I：

10.1159/000506165

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

CHARGE syndrome has a clinically broad spectrum of phenotypes, including partial or atypical type. CHD7 mutation is related to CHARGE syndrome that shows various phenotypes according to the CHD7 variant. Developments in genetic analysis techniques, such as next-generation sequencing (NGS), are helping both diagnosis and treatment of diseases. We report the case of a preterm infant diagnosed with atypical CHARGE who has a novel and de novo CHD7 variant that was identified using whole-genome sequencing (WGS). Neonatologists tend to be reluctant to diagnose infants with multiple malformations because they have to focus on treating life-threatening complications; however, NGS is considered helpful for the early diagnosis of broad-spectrum anomalies during the neonatal period.

引用

页码：374 / 379

页数：6

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