ArticleOrphanet journal of rare diseases2019
Expanding the clinical and genetic spectrum of Heimler syndrome.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 28 citations in OpenAlex.
- Review
- PEX6-Associated Heimler Syndrome 2 Presenting with Bernard-Soulier Syndrome.Indian pediatrics · 2026Article
- Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Review
- Heimler Syndrome Caused by NovelGenes · 2026Article
- Unraveling PEX6: insights into very-long-chain fatty acid levels and peroxisome biogenesis disorders in pediatric populations.Annals of pediatric endocrinology & metabolism · 2026Article
- Estimation ofGenetics in medicine open · 2025Article
- Biallelic Deletion ofMolecular syndromology · 2024Article
- Management of oral manifestations of a child with Heimler Syndrome-2.BMJ case reports · 2024Article
- PEX26 Functions as a Metastasis Suppressor in Colorectal Cancer.Digestive diseases and sciences · 2024Article
- Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort.Eye (London, England) · 2022Article
- Diagnostic Odyssey in an Adult Patient with Ophthalmologic Abnormalities and Hearing Loss: Contribution of RNA-Seq to the Diagnosis of a PEX1 Deficiency.International journal of molecular sciences · 2022Article
- Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome.Cold Spring Harbor molecular case studies · 2021Article
- Identification of a HomozygousGenes · 2021Article
- Peroxisomal Disorders and Their Mouse Models Point to Essential Roles of Peroxisomes for Retinal Integrity.International journal of molecular sciences · 2021Review
- Review
- The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Article
- Zellweger Syndrome Disorders: From Severe Neonatal Disease to Atypical Adult Presentation.Advances in experimental medicine and biology · 2020Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHeimler syndrome (HS) is a rare hereditary systemic disorder, partial clinically overlapping with Usher syndrome. So far, our knowledge of HS is very limited, many cases are misdiagnosed or may not even be diagnosed at all. This study aimed to analyze the clinical and genetic characteristics of HS, and to evaluate potential phenotype-genotype correlations.
resultsTwo HS cases caused by PEX1 mutations were identified, and a novel likely pathogenic mutation, PEX1 c.895_896insTATA, was found. The main ophthalmic finding of the two patients was consistent with retinitis pigmentosa accompanied by cystoid macular edema, but short axial length and hyperopia were also observed as two previously unreported ocular phenotypes. Analysis of the literature showed that of the 29 HS patients previously reported, 12 had PEX6 mutations, 10 had PEX1 mutations, two had PEX26 mutations, and the remaining patients were not genetically tested. Three novel genotype-phenotype correlations were revealed from analysis of these patients. First, most genotypes of every HS patient include at least one missense variant; second, at least one mutation in PEX1 or PEX6 gene affects the AAA-ATPase region in every HS patient with retinal dystrophy, suggesting AAA-ATPase region is a hypermutable region in patients with a retinal dystrophy; third, there are no significant differences between PEX1-, PEX6-, and PEX26-associated phenotypes.
conclusionNext-generation sequencing is important for the diagnosis of HS. This study expands the clinical and genetic spectrum of HS, and provides additional insights into genotype-phenotype correlations, which is vital for accurate clinical practice, genetic counseling, and pathogenesis studies.
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