Fig. 3

Genetic study of family 1. a Family pedigree. Patient 1 is the proband (IV1) of family 1, and the parents (III 1, III 2) are first-degree cousins. The great-grandfather (I1) was not available for genetic evaluation but was predicted to be a carrier. b Sequence analysis of human CYP27B1 gene in patient 1 and her pedigree members. Representative sequence electropherograms are shown. A seven-nucleotide duplication in exon 8 (c.1319_1325dupCCCACCC, p.Phe443Profs * 24) was presented in patient 1 and her father, mother, grandfather and grandmother. Patient 1 was homozygous, others were heterozygous