Regarding the CFTR gene, the frequency of alterationswas 9.8% (57/581), 10 harboring pathogenic variants and 47 carrying the 5T allele.One out of 426 (0.2%) exhibited a premutation in the FMR1 gene,1.6% (7/426) had alleles within the grey zone of CGG repeats, and 2.8% (11/394) werecarriers for SMA. The gene discussed is FMR1; the disease is proximal spinal muscular atrophy.