Fig. 1

Genetic analysis identified a CYP27A1 variant. A Pedigree of the family in the CYP27A1 variant carrier. Black arrow shows proband, B DNA chromatogram shows a homozygous C-to-T transition at nucleotide 808 of CYP27A1, predicting a substitution of an arginine for stop codon at residue 270 (p.Arg270Ter). + indicates variant positive, − indicates variant negative. (CYP27A1: NG_007959.1)