PT  - JOURNAL ARTICLE
AU  - Narcisse Elenga
AU  - Alain Verloes
AU  - Yajaira Mrsic
AU  - Célia Basurko
AU  - Roxane Schaub
AU  - Emma Cuadro-Alvarez
AU  - Rémi Kom-Tchameni
AU  - Gabriel Carles
AU  - Véronique Lambert
AU  - Rachida Boukhari
AU  - Aniza Fahrasmane
AU  - Anne Jolivet
AU  - Mathieu Nacher
AU  - Jean-François Benoist
TI  - Incidence of infantile Pompe disease in the Maroon population of French Guiana
AID  - 10.1136/bmjpo-2017-000182
DP  - 2018 Jan 01
TA  - BMJ Paediatrics Open
PG  - e000182
VI  - 2
IP  - 1
4099  - http://bmjpaedsopen.bmj.com/content/2/1/e000182.short
4100  - http://bmjpaedsopen.bmj.com/content/2/1/e000182.full
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.