RT Journal Article SR Electronic T1 Incidence of infantile Pompe disease in the Maroon population of French Guiana JF BMJ Paediatrics Open FD BMJ Publishing Group Ltd SP e000182 DO 10.1136/bmjpo-2017-000182 VO 2 IS 1 A1 Narcisse Elenga A1 Alain Verloes A1 Yajaira Mrsic A1 Célia Basurko A1 Roxane Schaub A1 Emma Cuadro-Alvarez A1 Rémi Kom-Tchameni A1 Gabriel Carles A1 Véronique Lambert A1 Rachida Boukhari A1 Aniza Fahrasmane A1 Anne Jolivet A1 Mathieu Nacher A1 Jean-François Benoist YR 2018 UL http://bmjpaedsopen.bmj.com/content/2/1/e000182.abstract AB 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.