ArticleAnnals of translational medicine2019
Two novel mutations of
Article in Annals of translational medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Lipid homeostasis plays a critical role in inherited and acquired retinal diseases.Communications biology · 2026Review
- Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations.Annals of pediatric endocrinology & metabolism · 2026Article
- Normal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report.BMC pediatrics · 2024Article
- Review
- Article
- A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders.Frontiers in neurology · 2020Review
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundZellweger spectrum disorder (ZSD) is an autosomal recessive peroxisome biogenesis disorder (PBD) caused by bi-allelic mutations in any of the 13
methodsWe reported a Chinese PBD-ZSD patient with compound heterozygous mutations of
resultsThe patient was diagnosed as PBD-ZSD and displayed retinitis pigmentosa, bilateral sensorineural hearing loss, hypotonia, developmental delay, ovarian and enamel dysplasia. Elevated very long chain fatty acids were shown and a pattern of leukodystrophy was displayed through MRI. The two mutations were novel with p.Cys358* and p.Leu83Pro, both classified as pathogenic according to American College of Medical Genetics and Genomics guideline. Phenotype-genotype correlations were shown in the reported patients with PBD-ZSD continuum.
conclusionswe reported the first Chinese PBD-ZSD patient with 2 novel mutations in PEX6. Target sequencing and VLFAC were helpful in diagnosis.
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Registered trials
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