Atopic disorders in CHARGE syndrome: A retrospective study and literature review

作者：Kong Fang; Martin Donna M^*

来源：European Journal of Medical Genetics, 2018, 61(4): 225-229.

DOI：10.1016/j.ejmg.2017.11.019

• Allergy
• Atopic disorders
• CHARGE syndrome
• CHD7

Background: Atopic disorders have been reported in CHARGE syndrome, but the prevalence and underlying mechanisms are not known.
Methods: We performed a retrospective study of atopic disorders in 23 individuals with CHARGE syndrome, and reviewed other published reports of atopic disorders in CHARGE syndrome. We assayed for enrichment of atopic disorders in CHARGE syndrome based on gender and presence of a CHD7 pathogenic variant.
Results: In our cohort, 65% (15/23) of individuals with CHARGE syndrome were found to have a pathogenic CHD7 variant. Overall, 65% (15/23) of individuals with CHARGE had atopic disorders. Among the 23 individuals with CHARGE, 22% (5/23) had food allergy, 26% (6/23) exhibited drug allergy, 22% (5/23) had contact allergy, 9% (2/23) had allergic rhinitis, and 22% (5/23) had asthma. In our cohort, the proportion of males to females with CHARGE and atopic disorders was 11:4 (P < 0.01), and there was no significant difference between atopic disorders in individuals with CHD7 pathogenic variants and those without CHD7 pathogenic variants (P > 0.05).
Conclusion: In our cohort of 23 individuals with CHARGE syndrome, 15 (65%) exhibited atopic disorders, with a slight male predominance.

• 出版日期2018-4
• 单位首都医科大学