Results
34 patients were studied; 18 patients belonged to 9 families, and 16 patients were non-familial, isolated PCG. Consanguinity was present in 28/34 (82.4%) of cases. All patients were diagnosed to have bilateral PCG at birth except one child. Male (21) > female (13). 82.4% (28/34) of patients were solved with pathogenic mutations and (6/34)17.6% remained unsolved. Direct sequencing of exon 2 revealed two pathogenic variants (p.Gly61Glu, p.Glu229Lys). P.Gly61Glu substitution was found both homozygous in 60.7% (17/28) and heterozygous in 3.6% (1/28) patients. P.Glu229Lys variant found heterozygous in 3.6% (1/28) cases. Two pathogenic variants (p.Ala443Gly, p.Arg469Trp) were found in exon 3. P.Ala443Gly was present in 3.6% (1/28) cases, while p.Arg469Trp was found in 28.6% (8/28) patients. All variants had been reported previously in Saudi population, except p.Glu229Lys.