Fig 1.
The c.113-2A>G and c.890T>C variant in the PEX10 gene in a family with PBDs.
(A) Family pedigree of the patients with autosomal recessive PBDs. White square with slash symbol indicates deceased unaffected male family member. White circle symbol represents unaffected female family member. Black circles and black squares denote affected females and males, respectively. Black circle with slash symbol indicates deceased affected female family member. The PEX10 gene variants were indicated under the individuals who had genetic analysis. (B) The PEX10 gene sequence with heterozygous c.113-2A>G variant of patient II:1. (C) The PEX10 gene sequence with heterozygous c.890T>C variant of patient II:1. (D) Conservative analysis of the PEX10 leucine residue at position 297 (p.Leu297). PEX10, the peroxisomal biogenesis factor 10 gene; PBDs, peroxisome biogenesis disorders.
Table 1.
Clinical features and examinations of four family members.
Fig 2.
Radiological images of three patients (II:1, II:3, and II:4).
Brain magnetic resonance imaging of three patients (A, C, and E) showing cerebellar atrophy (thick short arrow) and brain stem atrophy (thin long arrow), and chest X-ray showing scoliosis (B, D, and F).
Table 2.
Analysis of the PEX10 variants identified in the PBDs family.
Fig 3.
Sequence analysis of the cDNA in a family with PBDs.
(A) cDNA sequence with PEX10 c.113-2A>G variant of patient II:1. (B) cDNA sequence with PEX10 c.890T>C variant of patient II:1. (C) cDNA sequence of the normal splicing in the PEX10 gene of patient II:1. (D) cDNA sequence of the abnormal splicing caused by the PEX10 c.113-2A>G variant of patient II:1. cDNA, complementary DNA; PBDs, peroxisome biogenesis disorders; PEX10, the peroxisomal biogenesis factor 10 gene.
Fig 4.
Cartoon model of PEX10 protein structure visualized by Visual Molecular Dynamics based on SWISS-MODEL modelling.
(A) The deleted residues at position 39 to 65 (p.Ala39_Gly65del) are colored in the wild-type structure (p.Ala39_Gly65). (B) The residues at position 297, leucine (Leu) and proline (Pro), are indicated with ball-and-stick models. PEX10, peroxisomal biogenesis factor 10.
Table 3.
The reported variants in the PEX10 gene associated with PBDs.