Ataxia with novel compound heterozygous PEX10 mutations and a literature review of PEX10-related peroxisome biogenesis disorders

• Published in: Clinical neurology and neurosurgery 2019-02, Vol.177, p.92-96
• Main Authors: Zhang, Chao, Zhan, Fei-Xia, Tian, Wo-Tu, Xu, Yang-Qi, Zhu, Ze-Yu, Wang, Yan, Song, Xing-wang, Cao, Li
• Format: Article
• Language: English
• Subjects: Ankle; Ataxia; Atrophy; Biosynthesis; Cerebellar Ataxia - diagnosis; Cerebellar Ataxia - genetics; Cerebellum; Child; Chloroform; Deoxyribonucleic acid; Differential diagnosis; DNA; Evolution; Families & family life; Gait; Genes; Genetic Testing - methods; Genomics; Hemoglobin; Humans; Intellectual disabilities; Laboratories; Literature reviews; Magnetic resonance imaging; Magnetic resonance spectroscopy; Male; Mutation; Mutation - genetics; N-Acetylaspartate; Nerve conduction; Neurology; NMR; Nuclear magnetic resonance; Nystagmus; Peripheral blood; Peroxins - genetics; Peroxisomal Disorders - diagnosis; Peroxisomal Disorders - genetics; Peroxisome biogenesis disorders (PBD); Peroxisome biogenesis factor 10 (PEX10); Phenols; Receptors, Cytoplasmic and Nuclear - genetics; Tremor; Velocity; Walking
• ISSN: 0303-8467; 1872-6968
• DOI: 10.1016/j.clineuro.2019.01.004

•We identified an ataxia case of peroxisomal disorders caused by novel compound heterozygous mutations of the PEX10 gene.•We report the first Chinese patient with PEX10-related peroxisomal disorders.•We review PEX10–related peroxisomal disorders, of which 31 various mutations have been reported. To describe the clinical and genetic features of a Chinese peroxisome biogenesis disorder 6B patient with PEX10 mutations and review PEX10–related peroxisomal disorders. The proband is a 7-year-old boy with mild mental retardation and gait instability, intention tremor and nystagmus. An extensive clinical and laboratory evaluation including molecular genetic studies was performed. Genomic DNA was extracted from peripheral blood using the standardized phenol/chloroform extraction method, and the coding region of the PEX10 gene was sequenced in three family members. Cerebral MRI showed cerebellar atrophy. Magnetic resonance spectroscopy revealed a decreased N-acetyl aspartate peak in the cerebellum. Nerve conduction velocity examination found prolonged motor and sensory nerve potential latencies (proximal obvious), decreased potential amplitude, and slow nerve conduction velocity. Routine blood tests and biochemistries were abnormal. The PEX10 gene test showed compound heterozygous mutations (c.209 G > A, p. G70E and c.830 T > C, p. L277 P). The mutation c.830 T > C, p. L277 P has been previously reported, whereas c.209 G > A, p. G70E is novel. We identified an ataxia case of peroxisome biogenesis disorder 6B caused by novel compound heterozygous mutations of the PEX10 gene. Peroxisome biogenesis disorders should be considered in the differential diagnosis of autosomal recessive ataxia, especially cases with early onset.