ClinVar

In a patient (patient 2, PBDG-02) with Zellweger syndrome of complementation group G (PBD10A; 614882), Muntau et al. (2000) found a T-to-G transversion at position -8 of the 3-prime acceptor splice site of intron 10 of the PEX3 gene. This mutation led to deletion of exon 11 and a frameshift, with a premature termination after 3 amino acids, predicting a 56-amino acid C-terminal truncation of the protein. The male infant was cyanotic and markedly hypotonic at birth with absent deep tendon reflexes. He had a prominent midface and downslanting palpebral fissures, ocular hypertelorism, small low-set ears, a prominent nose, and a high-arched palate. The patient died at age 19 days. A brother had been similarly affected and died at age 15 days. Ghaedi et al. (2000) demonstrated the same mutation in a study of material from the same patient.

Poulos et al. (1995) originally studied this patient (patient 2) and described clinical, pathologic, and biochemical findings.