Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome.

Ole Magnus Bjorgaas HelleTorkild Høieggen PedersenLilian Bomme OusagerMads ThomassenJens Michael Hertz

Published in: Molecular genetics & genomic medicine (2020)

These findings highlight the importance of testing for mosaicism in unaffected parents of patients with sequence variants considered to be de novo, as it may have implications for the recurrence risk and thereby for the genetic counseling of the family.

Keyphrases

copy number
genome wide
case report
free survival
smoking cessation
hiv infected
breast cancer risk