Estimating the prevalence of congenital disaccharidase deficiencies using allele frequencies from gnomAD

C. de Leusse (1) , C. Roman (1) , B. Roquelaure (1) , Alexandre Fabre (2, 3)

1 TIMONE - Hôpital de la Timone [CHU - APHM]
2 MMG - Marseille medical genetics - Centre de génétique médicale de Marseille
3 Service de Pédiatrie Multidisciplinaire [Marseille]

Background: There are currently three known congenital disaccharidase deficiencies: congenital lactase deficiency (CLD), congenital sucrase-isomaltase deficiency (CSD), and congenital trehalase deficiency (CTD). No congenital deficiency has been described for maltase-glucoamylase (MGAM). Methods: A literature search was performed in PubMed for the pathogenic variants CLD, CSD, and CTD and the articles retrieved were analyzed to estimate the prevalence of congenital disaccharidase deficiencies. Results: Based on reported variants, the estimated prevalence was 1.3 per 106 births (95% CI: 1.1–1.7) for CLD, and 31.4 per 106 births (95% CI: 28.3–34.8) for CSD. Using data on previously reported variants and variants predicted to be loss-of-function in gnomAD, the overall estimated prevalence was 2.3 per 106 births (95% CI: 1.9–2.9) for CLD, 57.6 per 106 births (95% CI:52.5–63.2) for CSD, and 9.2 per 106 births (95% CI: 2.5–3.7) for CTD. Conclusion: The prevalence of CSD was found to be relatively high, while for other congenital disaccharidase deficiencies, the estimated prevalence was very low.

Domaines: Génétique; Médecine humaine et pathologie; Pédiatrie

C. de Leusse, C. Roman, B. Roquelaure, Alexandre Fabre. Estimating the prevalence of congenital disaccharidase deficiencies using allele frequencies from gnomAD. Archives de Pédiatrie, 2022, 29 (8), pp.599-603. ⟨10.1016/j.arcped.2022.08.005⟩. ⟨hal-04034595⟩