Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation

Cheillan, David

doi:10.1007/978-3-030-60204-8_6

Cited by 10 publications

(7 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As such, patients are typically managed using supportive and symptomatic therapies, including the use of antiepileptic drugs to manage epilepsy (Klouwer et al., 2015). Given the hereditary nature of these conditions, it is also essential to provide affected families with genetic counseling and prenatal diagnosis (Cheillan, 2020).…”

Section: Discussionmentioning

confidence: 99%

Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review

Su,

Peng,

Chen

et al. 2023

Molec Gen & Gen Med

View full text Add to dashboard Cite

BackgroundPeroxisome biogenesis disorders (PBDs) are caused by variants in PEX genes that impair peroxisome function. Zellweger spectrum disorders (ZSDs) are the most severe and common subtype of PBDs, affecting multiple organ systems due to peroxisomal involvement in various metabolic functions. PEX13 gene variants are rare causes of ZSDs, with only 21 cases reported worldwide and none in China.MethodsWe describe an infant with biochemically and molecularly confirmed ZSDs due to variants in the PEX13 gene, identified by whole exome sequencing and validated by Sanger sequencing. The patient's treatment and prognosis were followed up. We also reviewed the literature on previously reported cases with PEX13 variants.ResultsThe patient had severe hypotonia, seizures, hepatic dysfunction, failure to thrive, and dysmorphic features. Serum analysis revealed elevated levels of very long‐chain fatty acids (VLCFA), phytanic acid, and pipecolic acid. We detected a novel homozygous missense variant c.493G>C (p. Ala165Pro) in the PEX13 gene (NM_002618.3), which caused severe clinical manifestations and was inherited from the consanguineous parents. The patient died at the age of 14 months.ConclusionWe report the first case of ZSDs due to the PEX13 variant in China. Our findings broaden the mutational spectrum of the PEX13 gene and indicate that missense variants can lead to severe ZSDs phenotypes, which has implications for genotype–phenotype correlations and genetic counseling.

show abstract

Section: Discussionmentioning

confidence: 99%

Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review

Su,

Peng,

Chen

et al. 2023

Molec Gen & Gen Med

View full text Add to dashboard Cite

show abstract

“…Group 3: IRD, mild. Most of those affected suffer from ataxia, and many of them can go into adolescence (3,18,19). The differences between the three diseases were due to the severity of the clinical phenotype and the mutation of the genotype.…”

Section: Discussionmentioning

confidence: 99%

“…Findings include severe characteristic craniofacial deformities, hypotonia, and seizures. Hepatomegaly and renal cortical cyst accounted for 80% and 70% respectively (3). Eye abnormalities such as cataracts and sensorineural hearing loss are typical but not always recognizable when first presented (22).…”

Section: Discussionmentioning

confidence: 99%

PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome

He¹,

Lin²,

Xu³

et al. 2021

Transl Pediatr

View full text Add to dashboard Cite

with ZS is severely limited, with rarely a one-year survival (3). Patients with ZS have severe hypotonia, difficulty feeding, hepatomegaly, ocular disorders, and seizures. In addition, this phenotype is characterized by craniofacial abnormalities, including widely fontanelle, cranial sutures, prominent forehead, and low-set ears (4).ZSD is an autosomal recessive inherited disorder caused by a genetic defect (called PEX) involved in peroxisomal biosynthesis. Up to now, there have been 14 ZSD-PEX

show abstract

“…The physiological, clinical, diagnostic, and treatment aspects of peroxisomal disorders have been covered in recent reviews (Wanders et al 2017 , 2023 ; Wanders 2018 ; Cheillan 2020 ; Honsho et al 2020b ; Steinberg et al 2020 ; Bose et al 2022 ). Recently discovered new peroxisomal disorders such as deficiencies of ABCD3 (PMP70) (Ferdinandusse et al 2015 ), ACBD5 (Yagita et al 2017 ; Ferdinandusse et al 2017 ; Darwisch et al 2020 ) (see “ Mysterious shapers, movers, and regulators of peroxisome dynamics ”), and ACOX3 (Kim et al 2020 ) were also addressed elsewhere (Wanders 2018 ; Carmichael et al 2022 ; Wanders et al 2023 ) (Fig.…”

Section: Mysterious Disorders: the Loss Of Peroxisomal Functionsmentioning

confidence: 99%

The peroxisome: an update on mysteries 3.0

Kumar,

Islinger,

Worthy

et al. 2024

Histochem Cell Biol

View full text Add to dashboard Cite

Peroxisomes are highly dynamic, oxidative organelles with key metabolic functions in cellular lipid metabolism, such as the β-oxidation of fatty acids and the synthesis of myelin sheath lipids, as well as the regulation of cellular redox balance. Loss of peroxisomal functions causes severe metabolic disorders in humans. Furthermore, peroxisomes also fulfil protective roles in pathogen and viral defence and immunity, highlighting their wider significance in human health and disease. This has sparked increasing interest in peroxisome biology and their physiological functions. This review presents an update and a continuation of three previous review articles addressing the unsolved mysteries of this remarkable organelle. We continue to highlight recent discoveries, advancements, and trends in peroxisome research, and address novel findings on the metabolic functions of peroxisomes, their biogenesis, protein import, membrane dynamics and division, as well as on peroxisome–organelle membrane contact sites and organelle cooperation. Furthermore, recent insights into peroxisome organisation through super-resolution microscopy are discussed. Finally, we address new roles for peroxisomes in immune and defence mechanisms and in human disorders, and for peroxisomal functions in different cell/tissue types, in particular their contribution to organ-specific pathologies.

show abstract

Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation

Cited by 10 publications

References 39 publications

Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review

Severe Zellweger spectrum disorder due to a novel missense variant in the PEX13 gene: A case report and the literature review

PEX26 gene genotype-phenotype correlation in neonates with Zellweger syndrome

The peroxisome: an update on mysteries 3.0

Contact Info

Product

Resources

About