Fig. 2.

Pedigree charts and clinical findings of Family 4–6. a, c, h Pedigree charts of 3 Chinese CTX families, Squares indicate males; circles indicate females; black symbols indicate affected individuals; the arrow indicates the proband. b The chromatogram of the CYP27A1 variants (c.368_374delCCAGTAC and c.379C > T) identified in Family 4. d The chromatogram of CYP27A1 variants (c.1016C > T and c.1420C > T) identified in Family 2. e-g Hyperintense signals in bilateral cerebella and posterior cerebral white matter fibers of proband in Family 5 (marked with arrow). i The chromatogram of CYP27A1 variant (c.389 T > A and c.1263 + 1G > A) identified in Family 6