Spinal muscular atrophy genetic epidemiology and the case for premarital genomic screening in Arab populations.

Fatma RabeaMaha El NaofalIkram ChekrounMona KhalafNuha Al ZaabiKhawla AlZaabiMahmoud ElHalikSwarup DashYaser El SabaAzhari AliSmitha AbrahamKhansa FathiJwan ShekhySaad G AswadHaitham ElbashirFowzan Sami Alkuraya Tom LoneyAlawi Alsheikh-AliAbdulla Al KhayatAhmad Abou Tayoun

Published in: Communications medicine (2024)

The SMA carrier frequency and incidence we document suggests high potential benefit for universal implementation of premarital genomic screening for a wide range of recessive disorders in Arab populations.

Keyphrases

copy number
risk factors
primary care
healthcare
genetic diversity
genome wide
intellectual disability
quality improvement
dna methylation
risk assessment