Skip to Main content Skip to Navigation
Journal articles

Incidence of infantile Pompe disease in the Maroon population of French Guiana

Abstract : Objectives: The aim of this study was to describe the epidemiology of infantile Pompe disease (IPD) in French Guiana, a French overseas territory, by combining a retrospective case records study and a prospective anonymous genotyping in a sample of mothers followed in the two major maternity units of French Guiana. Methods: We identified 19 newborns with IPD born within a 13-year-period in French Guiana, corresponding to 1/4528 births. All children were born within the African-American Maroon (Bushinengue) community originating from slaves who settled along the Maroni river in the 19th century. We also performed an anonymised screening for all women in postpartum, in the two main maternity units of French Guiana. Results: Genetic investigations revealed that all patients with IPD were homozygotes or compound heterozygotes for two known pathogenic variations: c.2560C>T p.(Arg854*) that has already been reported in African-Americans and c.1942G>A p.(Gly648Ser), a rare previously considered to be variant. We identified no heterozygotes among 453 mothers of various ethnicities in Cayenne, but 15 heterozygotes among 425 mothers (1/27) in Saint-Laurent-du-Maroni (95% CI 1/45 to 1/17), all from the Maroon community, which corresponds to an expected IPD incidence in Maroons of 1/1727 (95% CI 1/1156 to 1/8100). Conclusion: The incidence of IPD in the Maroon community is roughly 50 times higher than elsewhere in the world. The presence of only two different variants in all affected patients is compatible with a double founder effect in a relatively small population that has seldom mixed with other regional populations in the past and therefore has a reduced pool of genotypes.
Keywords : genetics metabolic
Document type :
Journal articles
Complete list of metadata
Contributor : Inserm CIC1424 Centre d'Investigation Clinique Antilles Guyane Connect in order to contact the contributor
Submitted on : Monday, June 18, 2018 - 7:30:19 PM
Last modification on : Tuesday, April 19, 2022 - 10:15:03 AM
Long-term archiving on: : Monday, September 24, 2018 - 8:07:55 PM


2018, Elenga - Incidence of in...
Publication funded by an institution



Narcisse Elenga, Alain Verloes, Yajaira Mrsic, Celia Basurko, Roxane Schaub, et al.. Incidence of infantile Pompe disease in the Maroon population of French Guiana. BMJ Open, BMJ Publishing Group, 2018, 2 (1), pp.e000182. ⟨10.1136/bmjpo-2017-000182⟩. ⟨inserm-01818247⟩



Record views


Files downloads