Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening.
Majid AlfadhelMuhammad UmairBader AlmuzzainiSaif AlsaifSulaiman A AlMohaimeedMaher A AlmasharyWardah AlharbiLatifah AlayyarAbdulrahman AlasiriMariam BallowAbdulkareem AlAbdulrahmanMonira AlaujanMarwan NashabatAli Al-OdaibWaleed AltwaijriAhmed Al-RumayyanMuhammad T AlrifaiAhmed AlfaresMohammed AlBalwiBrahim TabarkiPublished in: Annals of clinical and translational neurology (2019)
For the first time in the literature, we determined the carrier frequency of SLC19A3 gene mutation in Saudi population. The estimated prevalence is too rare in Saudi population (at least one in million); therefore, the data are not in favor of including such very rare disorders in newborn screening program at population level. However, a larger cohort is needed for a more accurate estimate.