case_images: PMC11807841_01
case_images: PMC11807841_02
case_images: PMC11807841_03
case_images: PMC11807841_04
case_images: Genetic features of dominant PNPT1 families A. Pedigrees, Sanger confirmation of heterozygous variants and MRI brain showing cerebellar atrophy (AIII6 and BIII9) of Families 1 and 2. The black arrows represent the probands. B. Schematic of the PNPT1 protein domains and lollipop plot displaying pathogenic variants reported in PNPT1. Heterozygous variants are displayed in the above protein schematic, including variants in Families 1 (c.2014-3 C>f the recessive variants, only variants associated with predominant or isolated cerebellar features and/or sensory neuropathy are annotated. Blue/green variants are those found in trans in individuals. RNase-PH = 3'exoribonuclease family, domain 1;RNase_PH-C = 3'exoribonuclease family, domain 2:PNPase = polynucleotide nucleotidyltransferase, RNA binding domain; KH_1 = KH domain: S1 = S1 RNA binding domain.
case_images: ENE-32-e70064-g001.jpg
case_images: PMC11807841_06_ENE-32-e70064-g001.jpg
case_images: ene70064-fig-0001
case_images: MRI brain performed aged 17 years old showed cerebellar atrophy (Figure 1). Family 1 (AII4, AII5, AIII6 and AIII7) underwent a 'quad' study and the previously reported variant (NM_033109.5 c.2014-3C>G) segregated in all affected members and was absent in unaffected members (Figure 1A). AI1 and AII3. A novel nonsense variant (NM_033109.5 c.2143C>T p.Arg715Ter) was found in both affected members of Family 2 (Figure 1B).
case_images: PMC11807841_05
case_images: PMC11807841_06
case_images: Genetic features of dominant PNPT1 families A. Pedigrees, Sanger confirmation of heterozygous variants and MRI brain showing cerebellar atrophy (AIII6 and BIII9) of Families 1 and 2. The black arrows represent the probands. B. Schematic of the PNPT1 protein domains and lollipop plot displaying pathogenic variants reported in PNPT1. Heterozygous variants are displayed in the above protein schematic, including variants in Families 1 (c.2014-3 C>f the recessive variants, only variants associated with predominant or isolated cerebellar features and/or sensory neuropathy are annotated. Blue/green variants are those found in trans in individuals. RNase-PH = 3'exoribonuclease family, domain 1;RNase_PH-C = 3'exoribonuclease family, domain 2:PNPase = polynucleotide nucleotidyltransferase, RNA binding domain; KH_1 = KH domain: S1 = S1 RNA binding domain.
case_images: ENE-32-e70064-g001.jpg
case_images: PMC11807841_06_ENE-32-e70064-g001.jpg
case_images: ene70064-fig-0001
case_images: MRI brain performed aged 17 years old showed cerebellar atrophy (Figure 1). Family 1 (AII4, AII5, AIII6 and AIII7) underwent a 'quad' study and the previously reported variant (NM_033109.5 c.2014-3C>G) segregated in all affected members and was absent in unaffected members (Figure 1A). AI1 and AII3. A novel nonsense variant (NM_033109.5 c.2143C>T p.Arg715Ter) was found in both affected members of Family 2 (Figure 1B).