Genotype-phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants.

Paula Hernández-ArévaloJosé D SantotoribioRocío Delarosa-RodríguezAntonio González-MenesesSalvador García-MorilloPilar Jiménez-ArriscadoJuan M GuerreroHada C Macher

Published in: Orphanet journal of rare diseases (2021)

This study report four new genetic variants that contribute to the pathogenic variants spectrum of the GAA gene. We confirm that patients in Spain have a characteristic profile of a European population, with c.-32-13T>G being the most prevalent variant. Furthermore, it was confirmed that the c.236_246delCCACACAGTGC pathogenic variant in homozygosity is associated with early disease and a worse prognosis.

Keyphrases

end stage renal disease
newly diagnosed
ejection fraction
chronic kidney disease
copy number
peritoneal dialysis
gene expression
late onset
patient reported outcomes