A novel splice variant in intron 10 of PEX6 is associated with Zellweger Syndrome in a Chinese neonate.

Abstract excerpt

BACKGROUND: Zellweger Syndrome (ZS), or cerebrohepatorenal syndrome, is a rare disorder due to PEX gene mutations affecting peroxisome function. While PEX6 coding mutations are known to cause ZS, the impact of noncoding mutations is less clear. METHODS: A Chinese neonate and his family were subjected to whole exome sequencing (WES) and bioinformatics to assess variant pathogenicity. A minigene assay was also...

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• ATPases Associated with Diverse Cellular Activities
• East Asian People
• Exome Sequencing
• Infant, Newborn
• Introns