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PEX16 is associated with autosomal recessive Zellweger spectrum disorders. Two unrelated probands have been reported with biallelic PEX16 variants and typical Zellweger features: patient PBD061 with inactivating PEX16 mutations and an unrelated 6-month-old infant homozygous for the splice site variant c.460+5G>A (PMID:9922452, PMID:25287621). No additional affected relatives have been documented, consistent with an autosomal recessive inheritance pattern.
Functional studies demonstrate that PEX16 loss of function disrupts de novo peroxisome membrane biogenesis in patient fibroblasts. Injection of wild-type PEX16 restores peroxisome formation and subsequent import of matrix proteins within 2–3 hours, confirming haploinsufficiency as the pathogenic mechanism (PMID:9922452).
Key Take-home: PEX16 genetic testing confirms diagnosis of Zellweger spectrum disorders and highlights potential for targeted restoration of peroxisome biogenesis.
Gene–Disease AssociationLimitedTwo unrelated probands with biallelic PEX16 variants and consistent Zellweger spectrum phenotype Genetic EvidenceLimitedHomozygous PEX16 splice variant c.460+5G>A and inactivating mutations reported in two independent cases Functional EvidenceModerateCell rescue experiments show PEX16 expression restores peroxisome biogenesis and matrix import |