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Gene: PEX10

Green List (high evidence)

The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous, lethal diseases that are characterized by neuronal, hepatic, and renal abnormalities and severe intellectual disability; in their most severe form, death occurs within the first year of life. Well reported in individuals with peroxisome biogenesis disorder.
PDB 6A is the most severe form, and phenotypes include profound dystonia, seizures, inability to feed, craniofacial abnormalities, abnormal eyes, neuronal migration defects, hepatomegaly and achondroplasia.

PDB 6B is milder than 6A. The main clinical features are slowly progressive cerebellar ataxia and lower limb hypo or areflexia.

Genotype-phenotype correlations - PMID 10862081: All 4 PEX10-deficient Zellweger syndrome patients were found to have nonsense, frameshift, or splice site mutations that removed large portions of the PEX10 coding region. In contrast, a more mildly affected PEX10-deficient neonatal adrenoleukodystrophy patient expressed a PEX10 allele with a missense mutation, H290Q, affecting the C-terminal zinc-binding domain of the PEX10 product. These results supported the hypothesis that severe loss-of-function mutations in PEX genes cause more severe clinical phenotypes, whereas mildly affected PBD patients have PEX gene mutations that retain residual function.

Created: 2 Dec 2024, 4:31 a.m. | Last Modified: 2 Dec 2024, 4:31 a.m.

Panel Version: 1.633

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peroxisome biogenesis disorder 6A (Zellweger) MIM#614870; Peroxisome biogenesis disorder 6B MIM#614871

Publications

• 10862081
• 21031596
• 30640048