case_images: PMC10823004_01
case_images: T2-midsagittal and coronal MRI neuroimages showing vermis cerebellar atrophy of patient II-1 F1 upper panel and patient III 1 F2 lower panel.
case_images: fpsyt-14-1327802-g002.jpg
case_images: PMC10823004_01_fpsyt-14-1327802-g002.jpg
case_images: fig2
case_images: He was negative for the metabolic screening; the magnetic resonance imaging (MRI)-(Figure 2, upper panel):and EEG in wakefulness and short sleep phase were normal. Mb resolution was normal. MRI images were normal (Figure 2, lower panel).
case_images: PMC10823004_02
case_images: Localization of PTCHD1 variants and conservation of F626 among different species. Upper panel: 2D structure of PTCHD1 protein and localization of the missense variants identified to date. Lower panel: conservation of phenylalanine (F) 626 among different species (Clustal Omega).
case_images: fpsyt-14-1327802-g003.jpg
case_images: PMC10823004_02_fpsyt-14-1327802-g003.jpg
case_images: fig3
case_images: The real-time PCR analysis on The patient's and His mother's DNA revealed The maternal segregation of the deletion. Arr[hg19] Xp22.11(23,383,292 - 23,463,336) x0 mat (Figure 3 upper panel, pedigree, and graphical representation of array-CGH data). The array-CGH analysis on the patient's III 1 F2 DNA was normal.
case_images: 3D structure of the PTCHD1 missense variant identified in the present study. Human patched domain-containing protein 1 (PTCHD1), 3D structure (Uniprot Q96NR3): extracellular domain 1 (aa: 43-270) in cian; extracellular domain 2 (aa: 521-695) containing the missense variant p.F626S, in limon.
case_images: fpsyt-14-1327802-g004.jpg
case_images: PMC10823004_02_fpsyt-14-1327802-g004.jpg
case_images: fig4
case_images: The multiple sequence alignment of PTCHD1 protein among organisms around the sites of p.F626S was obtained with Clustal Omega3 (Figure 4).
case_images: PMC10823004_03
case_images: PMC10823004_04