Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease.

Anna CaciottiRodolfo ToninMatthew MortDavid N CooperSerena GasperiniMiriam RigoldiRossella PariniFederica DeodatoRoberta TaurisanoMichelina SibilioGiancarlo ParentiRenzo GuerriniAmelia Morrone

Published in: BMC medical genetics (2018)

We have identified GALNS variants located within deep intronic regions that have the potential to impact splicing. These findings have prompted us to incorporate mRNA analysis into our diagnostic flow procedure for the molecular analysis of Morquio A disease.

Keyphrases

copy number
genome wide
minimally invasive
gene expression
dna methylation
risk assessment
binding protein