We report aCHIME syndrome patient who harbors a missense mutation c.500T > C(p.Leu167Pro) and a large deletion involving the 5’ untranslated region and partof exon 1 of PIGL. In CHIME syndrome, a recurrent missensemutation c.500T > C (p.Leu167Pro) is found in the majority of patients,associated with a null mutation in the other allele, including anoverrepresentation of large deletions. This evidence concerns the gene PIGL and CHIME syndrome.