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Table 3 CNV genotypes that correlate with BA patients’ clinical phenotype

From: Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis

Patients Comorbidity CNV location Gene Human phenotype
BA99 Diabetes Mellitus type 1 16:81947921-82095870 (dup) PLCG2 PLCG2-associated antibody deficiency and immune dysregulation; diabetes mellitus type 1 [33]
BA44 Hashimoto thyroiditis 18:7080664-7584939 (dup) PTPRM Autoimmune disease [34, 35]
BA68 Eczema 18:55546006-56018494 (dup) NEDD4L asthma; metabolism; hypertension disease [36, 37]
BA123 nil 20:10533666-10694525 (del) JAG1 Alagille syndrome, BA [7]