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

Narcisse ElengaAlain VerloesYajaira MrsicCélia BasurkoRoxane SchaubEmma Cuadro-AlvarezRémi Kom-TchameniGabriel CarlesVéronique LambertRachida BoukhariAniza FahrasmaneAnne JolivetMathieu NacherJean-François Benoist

Published in: BMJ paediatrics open (2018)

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.

Keyphrases

end stage renal disease
risk factors
ejection fraction
newly diagnosed
healthcare
chronic kidney disease
late onset
mental health
peritoneal dialysis
prognostic factors
copy number
gene expression
replacement therapy
early onset
genetic diversity