PMC7342084_01
Pedigree charts of Family 1 to Family 4. Squares represent males, circles females; black symbols indicate affected individuals; the arrows indicate the probands, Patient T4550 (A), Patient T4979 (D), Patient T5200 (G) and Patient T5300 (J). Sequence chromatograms of the CYP27A1 variants identified in Patient T4550 (B,C), Patient T4979 (E,F), Patient 5200 (H,I) and Patient T5300 (K,L).
fgene-11-00682-g001.jpg
PMC7342084_04_fgene-11-00682-g001.jpg
F1
Patient 5300 was identified as a compound heterozygous mutation, c.379C>T (p.R127W) (Figure 1K) in exon 2 and abnormal splicing of c.1263+1G>A (Figure 1L) in intron 7.
Clinical findings of the probands. Pes cavus deformity of Patient T4550 (A). Brain magnetic resonance MR) of fluid attenuated inversion recovery (FLAIR) images were normal with Patient T4550 and Patient T4979 (B,C). Thickened bilateral Achilles xanthoma and ligamentum patellae of Patient T4979 (D,F). Xanthoma of the Achilles tendon on T2-weighed MRI (arrow) (E). Thickened ligamentum patellae on T2-weighed MRI (arrow) (G). Achilles tendon xanthoma located at right side and bilateral pes cavus of Patient T5200. (H) MRI demonstrated fusiform enlargement involving the Achilles tendons of Patient T5200 (arrow) (I). FLAIR MRI of Patient T5200's brain showed bilateral high-intensity areas in the dentate nuclei (J) and periventricular white matter (K) (arrow). Patient T5300's brain MR imaging showed hyperintensity lesions (L) and hypointensities (M) located at the dentate nuclei (arrow), and periventricular white matter hyperintensities (N). (O) Susceptibility-weighted imaging. Multiple microbleeds are seen in the bilateral dentate nuclei of Patient T5300.
fgene-11-00682-g002.jpg
PMC7342084_04_fgene-11-00682-g002.jpg
F2
Brain MRI indicated cerebellar atrophy (Figure 2M), T2 and Flair hyperintense signals in dentate nuclei (Figure 2L), periventricular white matter region and along corticospinal tracts in the posterior internal capsules (Figure 2N). Cerebral microbleeds were seen in susceptibility weighted imaging (SWI) (Figure 2O). The hypointensities lesions in the bilateral cerebellar dentate nuclei were also detected on T1-weighted sequences (Figure 2M).
PMC7342084_02
Pedigree charts of Family 1 to Family 4. Squares represent males, circles females; black symbols indicate affected individuals; the arrows indicate the probands, Patient T4550 (A), Patient T4979 (D), Patient T5200 (G) and Patient T5300 (J). Sequence chromatograms of the CYP27A1 variants identified in Patient T4550 (B,C), Patient T4979 (E,F), Patient 5200 (H,I) and Patient T5300 (K,L).
fgene-11-00682-g001.jpg
PMC7342084_04_fgene-11-00682-g001.jpg
F1
Patient 5300 was identified as a compound heterozygous mutation, c.379C>T (p.R127W) (Figure 1K) in exon 2 and abnormal splicing of c.1263+1G>A (Figure 1L) in intron 7.
Clinical findings of the probands. Pes cavus deformity of Patient T4550 (A). Brain magnetic resonance MR) of fluid attenuated inversion recovery (FLAIR) images were normal with Patient T4550 and Patient T4979 (B,C). Thickened bilateral Achilles xanthoma and ligamentum patellae of Patient T4979 (D,F). Xanthoma of the Achilles tendon on T2-weighed MRI (arrow) (E). Thickened ligamentum patellae on T2-weighed MRI (arrow) (G). Achilles tendon xanthoma located at right side and bilateral pes cavus of Patient T5200. (H) MRI demonstrated fusiform enlargement involving the Achilles tendons of Patient T5200 (arrow) (I). FLAIR MRI of Patient T5200's brain showed bilateral high-intensity areas in the dentate nuclei (J) and periventricular white matter (K) (arrow). Patient T5300's brain MR imaging showed hyperintensity lesions (L) and hypointensities (M) located at the dentate nuclei (arrow), and periventricular white matter hyperintensities (N). (O) Susceptibility-weighted imaging. Multiple microbleeds are seen in the bilateral dentate nuclei of Patient T5300.
fgene-11-00682-g002.jpg
PMC7342084_04_fgene-11-00682-g002.jpg
F2
Brain MRI indicated cerebellar atrophy (Figure 2M), T2 and Flair hyperintense signals in dentate nuclei (Figure 2L), periventricular white matter region and along corticospinal tracts in the posterior internal capsules (Figure 2N). Cerebral microbleeds were seen in susceptibility weighted imaging (SWI) (Figure 2O). The hypointensities lesions in the bilateral cerebellar dentate nuclei were also detected on T1-weighted sequences (Figure 2M).
PMC7342084_03
Pedigree charts of Family 1 to Family 4. Squares represent males, circles females; black symbols indicate affected individuals; the arrows indicate the probands, Patient T4550 (A), Patient T4979 (D), Patient T5200 (G) and Patient T5300 (J). Sequence chromatograms of the CYP27A1 variants identified in Patient T4550 (B,C), Patient T4979 (E,F), Patient 5200 (H,I) and Patient T5300 (K,L).
fgene-11-00682-g001.jpg
PMC7342084_04_fgene-11-00682-g001.jpg
F1
Patient 5300 was identified as a compound heterozygous mutation, c.379C>T (p.R127W) (Figure 1K) in exon 2 and abnormal splicing of c.1263+1G>A (Figure 1L) in intron 7.
Clinical findings of the probands. Pes cavus deformity of Patient T4550 (A). Brain magnetic resonance MR) of fluid attenuated inversion recovery (FLAIR) images were normal with Patient T4550 and Patient T4979 (B,C). Thickened bilateral Achilles xanthoma and ligamentum patellae of Patient T4979 (D,F). Xanthoma of the Achilles tendon on T2-weighed MRI (arrow) (E). Thickened ligamentum patellae on T2-weighed MRI (arrow) (G). Achilles tendon xanthoma located at right side and bilateral pes cavus of Patient T5200. (H) MRI demonstrated fusiform enlargement involving the Achilles tendons of Patient T5200 (arrow) (I). FLAIR MRI of Patient T5200's brain showed bilateral high-intensity areas in the dentate nuclei (J) and periventricular white matter (K) (arrow). Patient T5300's brain MR imaging showed hyperintensity lesions (L) and hypointensities (M) located at the dentate nuclei (arrow), and periventricular white matter hyperintensities (N). (O) Susceptibility-weighted imaging. Multiple microbleeds are seen in the bilateral dentate nuclei of Patient T5300.
fgene-11-00682-g002.jpg
PMC7342084_04_fgene-11-00682-g002.jpg
F2
Brain MRI indicated cerebellar atrophy (Figure 2M), T2 and Flair hyperintense signals in dentate nuclei (Figure 2L), periventricular white matter region and along corticospinal tracts in the posterior internal capsules (Figure 2N). Cerebral microbleeds were seen in susceptibility weighted imaging (SWI) (Figure 2O). The hypointensities lesions in the bilateral cerebellar dentate nuclei were also detected on T1-weighted sequences (Figure 2M).
PMC7342084_04
Pedigree charts of Family 1 to Family 4. Squares represent males, circles females; black symbols indicate affected individuals; the arrows indicate the probands, Patient T4550 (A), Patient T4979 (D), Patient T5200 (G) and Patient T5300 (J). Sequence chromatograms of the CYP27A1 variants identified in Patient T4550 (B,C), Patient T4979 (E,F), Patient 5200 (H,I) and Patient T5300 (K,L).
fgene-11-00682-g001.jpg
PMC7342084_04_fgene-11-00682-g001.jpg
F1
Patient 5300 was identified as a compound heterozygous mutation, c.379C>T (p.R127W) (Figure 1K) in exon 2 and abnormal splicing of c.1263+1G>A (Figure 1L) in intron 7.
Clinical findings of the probands. Pes cavus deformity of Patient T4550 (A). Brain magnetic resonance MR) of fluid attenuated inversion recovery (FLAIR) images were normal with Patient T4550 and Patient T4979 (B,C). Thickened bilateral Achilles xanthoma and ligamentum patellae of Patient T4979 (D,F). Xanthoma of the Achilles tendon on T2-weighed MRI (arrow) (E). Thickened ligamentum patellae on T2-weighed MRI (arrow) (G). Achilles tendon xanthoma located at right side and bilateral pes cavus of Patient T5200. (H) MRI demonstrated fusiform enlargement involving the Achilles tendons of Patient T5200 (arrow) (I). FLAIR MRI of Patient T5200's brain showed bilateral high-intensity areas in the dentate nuclei (J) and periventricular white matter (K) (arrow). Patient T5300's brain MR imaging showed hyperintensity lesions (L) and hypointensities (M) located at the dentate nuclei (arrow), and periventricular white matter hyperintensities (N). (O) Susceptibility-weighted imaging. Multiple microbleeds are seen in the bilateral dentate nuclei of Patient T5300.
fgene-11-00682-g002.jpg
PMC7342084_04_fgene-11-00682-g002.jpg
F2
Brain MRI indicated cerebellar atrophy (Figure 2M), T2 and Flair hyperintense signals in dentate nuclei (Figure 2L), periventricular white matter region and along corticospinal tracts in the posterior internal capsules (Figure 2N). Cerebral microbleeds were seen in susceptibility weighted imaging (SWI) (Figure 2O). The hypointensities lesions in the bilateral cerebellar dentate nuclei were also detected on T1-weighted sequences (Figure 2M).