Fig. 1

Sanger sequencing results of our patient and his parents. The red arrow indicates the variant locus. a A c.301G > A (p.Val101Met) hemizygous mutation in the GPI gene originated from the patient’s father. b A c.812delG (p.Gly271Glufs*131) hemizygous mutation in the GPI gene originated from the patient’s mother. P, proband; M, mother; F, father