ArticleBasic and clinical neuroscience
Expanding the Phenotype and Genotype Spectrum of a Novel Mutation in Hypomyelinating Leukodystrophy-5 With a Review of the Literature on 42 Cases.
Article in Basic and clinical neuroscience. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Weighted Gene Co-Expression Network Analysis and Alternative Splicing Analysis Reveal Key Genes Regulating Overfeeding-Induced Fatty Liver in Lion-Head Goose.International journal of molecular sciences · 2025Article
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Authors and funding
6 authors.
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Abstract
Introduction: Hypomyelinating leukodystrophy-5 (HLD-5) is a rare multiple congenital anomaly with intellectual disability caused by an autosomal recessive mutation in the Methods: We subjected a case with an initial diagnosis of HLD-5 in an Iranian family. To identify the possible genetic cause(s), whole exome sequencing (WES) was conducted to detect exon mutations. Sanger sequencing was performed to verify the DNA sequence variants and co-segregation analysis. We predicted the potential deleterious effects of the novel mutation using in silico predictive tools. Results: WES identified a novel homozygous mutation (NM_032581: c.636_639del p.C213Dfs*7) in the Conclusion: This study explained the clinical manifestations and molecular findings of HLD-5. Additionally, we reported a novel variant and some rare clinical features, such as exophthalmos and strabismus, in our proband for the first time. Further research is needed to clarify the molecular mechanisms underlying HLD-5 pathogenesis.
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