CHARGE syndrome patient with novel CHD7 mutation presenting with severe laryngomalacia and feeding difficulty.

CHARGE 综合征患者有新型 CHD7 突变 ， 表现为严重的喉软化和进食困难。

• 发表时间: Jul 2020 22
• 来源期刊: BMJ Case Rep
• DOI: 10.1136/bcr-2019-233037
• PMID: 32699053
• 文章类型: Case Reports
• 作者列表: Lau CL,Chee YY,Chung BHY,Wong MSR

关键词: CPAP; congenital disorders; genetics

Mesh: CHARGE Syndrome / complications genetics physiopathology therapy; Choanal Atresia / genetics; Coloboma / genetics; DNA Helicases / genetics; DNA-Binding Proteins / genetics; Humans; Infant; Laryngomalacia / diagnosis etiology therapy; Male; Mutation; Phenotype

Abstract

We report a case of CHARGE syndrome with atypical phenotype and a novel mutation in the CHD7 gene. Laryngomalacia and swallowing difficulties are prominent features in this case. These are commonly found in patients with CHARGE syndrome and are well described in previous studies. However, with the traditional diagnostic criteria, diagnosis is difficult without the presence of coloboma or choanal atresia. Early diagnosis is possible with the aid of clinical genetics. The current diagnostic criteria would need to be broadened with the inclusion of pathogenic CHD7 variant status as a major criterion. Further research on the function of CHD7 gene may also give us more insight on the pathogenic mechanism of various clinical features of CHARGE syndrome.

摘要

我们报告一例CHARGE综合征，具有非典型表型和CHD7基因的新突变。喉软化和吞咽困难是这种情况下的突出特征。这些常见于CHARGE综合征患者，并在先前的研究中有很好的描述。然而,按照传统的诊断标准，如果没有结肠瘤或后鼻孔闭锁，诊断是困难的。在临床遗传学的帮助下，早期诊断是可能的。当前的诊断标准需要扩大，包括致病性CHD7变异状态作为主要标准。对CHD7基因功能的进一步研究也可能使我们更深入地了解CHARGE综合征各种临床特征的致病机制。