case_images: PMC11163128_01
case_images: Timeline, brain imaging, MRI of femoral head, pedigrees, and sequencing results of the family with PFBC and ONFH. (A) A timeline of historical and current information of the care. (B) Brain imaging of the patient and her father. White arrows indicate calcification regions in the bilateral basal ganglia. (C) Osteonecrosis of the femoral head. Coronal T1-weighted magnetic resonance imaging displayed slightly hypointense lesions in both femoral heads, with a more pronounced pattern on the right side (white arrow). (D) Pedigrees of the family with PFBC with PDGFRB mutation R334Q. A black arrow marks the proband. Males and females are indicated by squares and circles, respectively. Symbols with slashes indicate deceased individuals. Black symbols indicate individuals with PFBC and confirmed PDGFRB R334Q mutation; gray symbols indicate individuals with similar clinical manifestations without genetic analysis; symbols with question marks indicate individuals with unknown status. (E) Sequencing chromatogram of the mutation R334Q in PDGFRB. (F) Multiple sequence alignment in the PDGFRB gene. Amino acids surrounding the mutation position (marked with a red box) are listed.
case_images: fnins-18-1381840-g001.jpg
case_images: PMC11163128_02_fnins-18-1381840-g001.jpg
case_images: fig1
case_images: His head CT revealed mild bilateral basal ganglia calcification (Figure 1B). These variants were confirmed by Sanger sequencing (Figure 1E). The p.R334Q variant is located in exon 7 of PDGFRB, which is within an extracellular immunoglobulin (Ig) - like domain (D4) conserved in mammalian species (Figures 1F, 2).
case_images: PMC11163128_02
case_images: Timeline, brain imaging, MRI of femoral head, pedigrees, and sequencing results of the family with PFBC and ONFH. (A) A timeline of historical and current information of the care. (B) Brain imaging of the patient and her father. White arrows indicate calcification regions in the bilateral basal ganglia. (C) Osteonecrosis of the femoral head. Coronal T1-weighted magnetic resonance imaging displayed slightly hypointense lesions in both femoral heads, with a more pronounced pattern on the right side (white arrow). (D) Pedigrees of the family with PFBC with PDGFRB mutation R334Q. A black arrow marks the proband. Males and females are indicated by squares and circles, respectively. Symbols with slashes indicate deceased individuals. Black symbols indicate individuals with PFBC and confirmed PDGFRB R334Q mutation; gray symbols indicate individuals with similar clinical manifestations without genetic analysis; symbols with question marks indicate individuals with unknown status. (E) Sequencing chromatogram of the mutation R334Q in PDGFRB. (F) Multiple sequence alignment in the PDGFRB gene. Amino acids surrounding the mutation position (marked with a red box) are listed.
case_images: fnins-18-1381840-g001.jpg
case_images: PMC11163128_02_fnins-18-1381840-g001.jpg
case_images: fig1
case_images: His head CT revealed mild bilateral basal ganglia calcification (Figure 1B). These variants were confirmed by Sanger sequencing (Figure 1E). The p.R334Q variant is located in exon 7 of PDGFRB, which is within an extracellular immunoglobulin (Ig) - like domain (D4) conserved in mammalian species (Figures 1F, 2).
case_images: Schematic diagram of the PDGFRB gene and localization of variants. SP, signal peptide; TM, transmembrane domain; JM, juxtamembrane domain. Variants in red indicate a confirmed detrimental effect to induce PFBC, variants in blue indicate an unclear relationship with PFBC, and the variant in black indicates the mutation (R334Q) found in this family.
case_images: fnins-18-1381840-g002.jpg
case_images: PMC11163128_02_fnins-18-1381840-g002.jpg
case_images: fig2
case_images: The p.R334Q variant is located in exon 7 of PDGFRB, which is within an extracellular immunoglobulin (Ig) - like domain (D4) conserved in mammalian species (Figures 1F, 2).