Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation
-
Cengiz Havali
,
Sevil Dorum
Abstract
Background
Peroxisomal biogenesis disorders (PBDs) include a miscellaneous group of diseases which cause serious multisystem disease. Mutations of 13 different PEX genes lead to PBDs including Zellweger syndrome (ZS). Different types of mutations of PEX1 and PEX10 genes are correlated with broad-range phenotypes of PBDs.
Case presentation
Patient 1 is a 4-month-old boy who was affected by myoclonic seizures, poor oral feeding since birth. The patient was hypotonic and had hepatosplenomegaly. Patient 2 is a 2-month-old boy who presented with decreased movement, severe hypotonia and failure to thrive. The laboratory studies of the patients revealed increased plasma very-long-chain fatty acids (VLCFAs). The genetic analyses of patient 1 demonstrated the first homozygous missense mutation in the PEX10 gene. A novel homozygous missense mutation was found in the PEX1 gene in patient 2.
Conclusions
This report highlights that the detected homozygous missense mutations of PEX10 and PEX1 genes and the substitutions of specific amino acids lead to the severe form of PBDs.
Acknowledgements
We are grateful to our patients and their families for their contributions to this study. Also, the authors are thankful to all laboratory workers for their vigorous efforts.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved the submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
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Articles in the same Issue
- Frontmatter
- Original Articles
- Vitamin D status in Israeli pediatric type 1 diabetes patients: the AWeSoMe Study Group experience and literature review
- Metabolic features and changes in glucose-induced serum glucagon-like peptide-1 levels in children with hypothalamic obesity
- Assessment of intima-media thickness of the carotid artery and intraluminal diameter of the brachial artery as cardiovascular risk markers in Brazilian adolescents with overweight or obesity
- The role of LCPUFA-ω3 on the obesity-associated hyperandrogenemia of pubertal girls: secondary analysis of a randomized clinical trial
- Genetic variants of the phenylalanine hydroxylase gene in patients with phenylketonuria in the northeast of Iran
- Oral health status of children with phenylketonuria
- Birth weight related blood concentrations of the neurotransmission amino acids glutamine plus glutamate, phenylalanine and tyrosine in full-term breastfed infants perinatally
- Hyperthyrotropinemia is common in preterm infants who are born small for gestational age
- Radioactive iodine therapy for pediatric Graves’ disease: a single-center experience over a 10-year period
- The decision-making levels of urine tetrasaccharide for the diagnosis of Pompe disease in the Turkish population
- A questionnaire study on sleep disturbances associated with Prader-Willi syndrome
- Body size measurements, digit ratio (2D:4D) and oestrogen and progesterone receptors’ expressions in juvenile gigantomastia
- The effect of celiac disease and gluten-free diet on pubertal development: a two-center study
- Observational study of disorders of sex development in Yaounde, Cameroon
- Letter to the Editor
- Reforming the male Tanner genital scale
- Short Communication
- The association between vitamin D levels and precocious puberty: a meta-analysis
- Case Reports
- Partial trisomy 9p and 14q microduplication in a patient with growth retardation: a case report and review of the literature
- Two different missense mutations of PEX genes in two similar patients with severe Zellweger syndrome: an argument on the genotype-phenotype correlation
- Patient report
- Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene
- Case Report
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