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Incidence of infantile Pompe disease in the Maroon population of French Guiana
  1. Narcisse Elenga1,
  2. Alain Verloes2,
  3. Yajaira Mrsic1,
  4. Célia Basurko3,
  5. Roxane Schaub3,
  6. Emma Cuadro-Alvarez1,
  7. Rémi Kom-Tchameni1,
  8. Gabriel Carles4,
  9. Véronique Lambert4,
  10. Rachida Boukhari5,
  11. Aniza Fahrasmane3,
  12. Anne Jolivet6,
  13. Mathieu Nacher3,
  14. Jean-François Benoist7
  1. 1 Department of Pediatrics, Andrée Rosemon Regional Hospital, Cayenne, French Guiana
  2. 2 Department of Genetics, USCP University and INSERM UMR 1141, APHP-Robert Debré University Hospital, Paris, French
  3. 3 Centre d’Investigation Clinique Antilles-Guyane, Inserm 1424, Andrée Rosemon Regional Hospital, Cayenne, French Guiana
  4. 4 Department of Gynecology and Obstetrics, Frank Joly West Guiana Regional Hospital, Saint-Laurent-du-Maroni, French Guiana
  5. 5 Deparment of Clinical Biology, Frank Joly West Guiana Regional Hospital, Saint-Laurent-du-Maroni, French Guiana
  6. 6 Department of Public Health, Frank Joly West Guiana Regional Hospital, Saint-Laurent-du-Maroni, French Guiana
  7. 7 Department of Biochemistry, APHP-Robert Debré University Hospital, Paris, France
  1. Correspondence to Dr Narcisse Elenga; elengafr{at}


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.

  • genetics
  • metabolic

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  • Contributors NE, AV and MN analysed the data and drafted the manuscript; YM, EC-A, RK-T, GC, VL and RB collected the data; and CB and AF provided necessary logistic support. J-FB contributed in data production. RS, AJ and J-FB provided critical comments on the manuscript.

  • Funding This work was supported by the European Regional Development Fund (ERDF), grant N°1990/sgar-de/2013.

  • Competing interests None declared.

  • Patient consent Parental/guardian consent obtained.

  • Ethics approval Ethical Research Committee of INSERM (N°14-131) and by the Commission Nationale Informatique et Libertés (N/Réf: MMS/CWR/AR 153222).

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Data sharing statement No additional data are available.

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