Related Experiment Video

Updated: Jun 19, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients

Merel S Ebberink1, Janet Kofster, Ronald J A Wanders

  • 1University of Amsterdam, Academic Medical Center, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.

Human Mutation
|October 31, 2009
PubMed

Insights

Zellweger spectrum disorders, a peroxisome biogenesis disorder subgroup, are often caused by PEX6 gene mutations. A new high-resolution melting assay identified 77 PEX6 mutations in 75 patients, advancing genetic diagnostics for these severe conditions.

Area of Science:

  • Genetics
  • Molecular Biology
  • Biochemistry

Background:

  • Zellweger spectrum disorders (ZSS) are a group of severe, multi-systemic inherited diseases.
  • ZSS are peroxisome biogenesis disorders, with mutations in PEX genes causing impaired peroxisome function.
  • Mutations in the PEX6 gene are the second most frequent cause of ZSS.

Purpose of the Study:

  • To develop and implement a novel method for identifying sequence variations in the PEX6 gene.
  • To analyze the PEX6 gene in a cohort of patients with ZSS.

Main Methods:

  • Developed a post-PCR high-resolution melting (HRM) curve assay for PEX6 gene scanning.
  • Utilized selective sequencing to confirm identified sequence variations.
  • Analyzed PEX6 genes from 75 patients belonging to the PEX6 complementation group.

Main Results:

  • Identified a total of 77 distinct mutations within the PEX6 gene.
  • Discovered 47 novel mutations not previously reported in the literature.
  • Characterized 14 polymorphic variants in the PEX6 gene.

Conclusions:

  • The developed HRM assay is an effective tool for PEX6 mutation screening.
  • This study expands the spectrum of known PEX6 mutations associated with ZSS.
  • Findings contribute to improved genetic diagnosis and understanding of ZSS pathogenesis.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

In Vivo Modeling of the Morbid Human Genome using Danio rerio12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Related Concept Videos

Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
Pedigree Analysis01:35

Pedigree Analysis

Overview
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.