ArticleEuropean journal of human genetics : EJHG2011
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Article in European journal of human genetics : EJHG, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 66 citations in OpenAlex.
- Extensive Hypoglycosylation of Serum N-Glycoproteins in SRD5A3 Deficiency.Journal of inherited metabolic disease · 2026Article
- Syndromic ichthyoses.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Emerging Epidemiological Data on Rare Intellectual Disability Syndromes from Analyzing the Data of a Large Iranian Cohort.Archives of Iranian medicine · 2023Article
- Overexpression of SRD5A3 in Hepatocellular Carcinoma and Its Molecular Mechanism: A Study of Bioinformatics Exploration Analysis with Experimental Verification.Evidence-based complementary and alternative medicine : eCAM · 2022Article
- Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.Frontiers in genetics · 2021Article
- Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors.Investigative ophthalmology & visual science · 2020Article
- Article
- Distinct genetic variation and heterogeneity of the Iranian population.PLoS genetics · 2019Article
- Genome sequence of the basal haplorrhine primate Tarsius syrichta reveals unusual insertions.Nature communications · 2016Article
- Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.JIMD reports · 2016Article
- A novel locus on canine chromosome 13 is associated with cataract in the Australian Shepherd breed of domestic dog.Mammalian genome : official journal of the International Mammalian Genome Society · 2015Article
- Skin manifestations in CDG.Journal of inherited metabolic disease · 2014Review
- Adult phenotype and further phenotypic variability in SRD5A3-CDG.BMC medical genetics · 2014Article
- A systematic evaluation of hybridization-based mouse exome capture system.BMC genomics · 2013Article
- Approaches to homozygosity mapping and exome sequencing for the identification of novel types of CDG.Glycoconjugate journal · 2013Review
- Bisphenol A exposure during adulthood alters expression of aromatase and 5α-reductase isozymes in rat prostate.PloS one · 2013Article
- Heritable disorders in the metabolism of the dolichols: A bridge from sterol biosynthesis to molecular glycosylation.American journal of medical genetics. Part C, Seminars in medical genetics · 2012Review
- Mutations in NSUN2 cause autosomal-recessive intellectual disability.American journal of human genetics · 2012Article
- Analysis of DNA sequence variants detected by high-throughput sequencing.Human mutation · 2012Article
- Life with too much polyprenol: polyprenol reductase deficiency.Molecular genetics and metabolism · 2012Article
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12 authors at 3 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
As part of a large-scale, systematic effort to unravel the molecular causes of autosomal recessive mental retardation, we have previously described a novel syndrome consisting of mental retardation, coloboma, cataract and kyphosis (Kahrizi syndrome, OMIM 612713) and mapped the underlying gene to a 10.4-Mb interval near the centromere on chromosome 4. By combining array-based exon enrichment and next generation sequencing, we have now identified a homozygous frameshift mutation (c.203dupC; p.Phe69LeufsX2) in the gene for steroid 5α-reductase type 3 (SRD5A3) as the disease-causing change in this interval. Recent evidence indicates that this enzyme is required for the conversion of polyprenol to dolichol, a step that is essential for N-linked protein glycosylation. Independently, another group has recently observed SRD5A3 mutations in several families with a type 1 congenital disorder of glycosylation (CDG type Ix, OMIM 212067), mental retardation, cerebellar ataxia and eye disorders. Our results show that Kahrizi syndrome and this CDG Ix subtype are allelic disorders, and they illustrate the potential of next-generation sequencing strategies for the elucidation of single gene defects.
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