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

Cheuk Lam Lau; Yuet Yee Chee; Brian Hon Yin Chung; Ming Sum Rosanna Wong

doi:10.1136/bcr-2019-233037

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

BMJ Case Rep. 2020 Jul 22;13(7):e233037. doi: 10.1136/bcr-2019-233037.

Authors

Cheuk Lam Lau¹, Yuet Yee Chee¹, Brian Hon Yin Chung², Ming Sum Rosanna Wong¹

Affiliations

¹ Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, China.
² Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, China bhychung@hku.hk.

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.

Keywords: CPAP; congenital disorders; genetics.

Publication types

Case Reports

MeSH terms

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

Substances

DNA-Binding Proteins
DNA Helicases
CHD7 protein, human