ArticleBMC medical genetics2014
Adult phenotype and further phenotypic variability in SRD5A3-CDG.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).International journal of molecular sciences · 2022Pooled it
- Tissue-specific expression and regulation of congenital disorders of glycosylation genes: A GTEx-based in silico study.Molecular genetics and metabolism reports · 2026Article
- Multimodal insights into adult neurogenesis: An integrative review of multi-omics approaches.Heliyon · 2025Review
- Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.BMC research notes · 2023Article
- Quantification of Dolichyl Phosphates Using Phosphate Methylation and Reverse-Phase Liquid Chromatography-High Resolution Mass Spectrometry.Analytical chemistry · 2023Article
- A rare case of SRD5A3-CDG in a patient with ataxia and telangiectasia: A case report.Clinical case reports · 2022Article
- SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.Frontiers in genetics · 2021Article
- Ecotype differences in aggression, neural activity and behaviorally relevant gene expression in cichlid fish.Genes, brain, and behavior · 2020Article
- Integrative and Analytical Review of the 5-Alpha-Reductase Type 2 Deficiency Worldwide.The application of clinical genetics · 2020Review
- Article
- Identification of a case ofThe Indian journal of medical research · 2018Article
- SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features.American journal of medical genetics. Part A · 2016Article
- Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.JIMD reports · 2016Article
- Genetic defects in dolichol metabolism.Journal of inherited metabolic disease · 2015Review
Corrections and comments
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Authors and funding
5 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundSRD5A3 is responsible for SRD5A3-CDG, a type of congenital disorder of glycosylation, and mutations have been reported in 15 children. All the mutations are recessive and truncating. CASE PRESENTATION: We present 2 brothers at the age of 38 and 40 years with an initial diagnosis of cerebellar ataxia. We found the candidate disease loci via linkage analysis using data from single nucleotide polymorphism genome scans and homozygous truncating mutation SRD5A3 p.W19X, which was previously reported in 3 unrelated children, by exome sequencing.Clinical investigations included physical and ocular examinations and blood tests. Severe ocular involvement with retinal bone spicule pigmentation and optic atrophy are the most prominent disabling clinical features of the disease. The serum transferrin isoelectric focusing (TIEF) pattern is abnormal in the patient investigated.
conclusionOur patients are older, with later onset and milder clinical phenotypes than all patients with SRD5A3-CDG reported so far. They also have atypical ocular findings and variable phenotypes. Our findings widen the spectrum of phenotypes resulting from SRD5A3 mutations and the clinical variability of SRD5A3-CDG, and suggest screening for SRD5A3 mutations in new patients with at least a few of the clinical symptoms of SRD5A3-CDG.
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