New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden.

Farida GorramMalin OlssonFlora AlarconGregory NuelIntissar Anan Violaine Planté-Bordeneuve

Published in: Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis (2020)

Our study provides new data on the genetics of ATTRV30M families in Sweden, including the occurrence of anticipation and on penetrance. Both are increased in case of maternal inheritance and in male patients. Overall, gender seems to be a factor that substantially modulates the AO of the disease, in this area. Clinically, these findings are of importance to guide the management of sibships and the monitoring of mutation carriers.

Keyphrases

end stage renal disease
electronic health record
newly diagnosed
ejection fraction
chronic kidney disease
big data
prognostic factors
mental health
peritoneal dialysis
genome wide
physical activity
pregnant women
birth weight
copy number
patient reported
gestational age
preterm birth