| Affiliation: | 1. Department of Rheumatology and Allergy, Xuanwu Hospital, Capital Medical University, Beijing, China;2. Department of Pediatrics and Communicable Diseases, The University of Michigan Medical School, Ann Arbor, MI, USA;3. Department of Human Genetics, The University of Michigan Medical School, Ann Arbor, MI, USA |
| Abstract: | BackgroundAtopic disorders have been reported in CHARGE syndrome, but the prevalence and underlying mechanisms are not known.MethodsWe 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.ResultsIn 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).ConclusionIn our cohort of 23 individuals with CHARGE syndrome, 15 (65%) exhibited atopic disorders, with a slight male predominance. |
