Fig. 1

Pedigree charts and clinical findings of Family 1–3. A, E, 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 (a.435G > T and b.c.571C > T) identified in Family 1. C. Hyperintense signals in bilateral cerebella and posterior cerebral white matter fibers of proband in Family 1 (a and b); Sagittal proton density-weighted image shows fusiform thickening of the Achilles tendon (c) (marked with arrow). D. HE staining of the tendon masses reveals dispersed lipid crystal clefts. 100×. F. The chromatogram of CYP27A1 variants (c.1214G > A and c.1435C > T) identified in Family 2 (a and b) (marked with triangle). G. Enlargement of the Achilles tendons of proband in Family 2 (a); Hyperintense signals in bilateral cerebella, lateral ventricle and posterior cerebral white matter fibers of proband in Family 2 (b, c and d); Hyperintense signal on T1-weighted images of proband in Family 2 (e) (marked with arrow and triangle). I. The chromatogram of CYP27A1 variant (c.1435G > T) identified in Family 3. J. Subcutaneous masses of proband in Family 3