Rare PHEX intron variant causes complete and severe phenotype in a family with hypophosphatemic rickets: a case report.

Francesca AielloDaniela PasqualiFederico BaronioAlessandra CassioCesare RossiRosa Di FraiaRaffaela CarotenutoLucia DigitaleAdalgisa FestaCaterina LuongoGiulio MaltoniRoberta Schiano di ColaEmanuele Miraglia Del GiudiceAnna Grandone

Published in: Journal of pediatric endocrinology & metabolism : JPEM (2022)

This case demonstrated c.1586+6T>C causes a severe XLH phenotype, responsive to Burosumab. Familial genetic screening, enlarged to intronic region analysis, when XLH is suspected, allows precocious diagnosis to start timely the appropriate treatment.

Keyphrases

early onset
genome wide
pulmonary embolism
drug induced
gene expression
dna methylation
copy number
drug delivery