ArticleBMC medical genetics2015
Novel compound heterozygous mutations in AMN cause Imerslund-Gräsbeck syndrome in two half-sisters: a case report.
Article in BMC medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin BCell reports. Medicine · 2022Pooled it
- Imerslund-Gräsbeck Syndrome Caused by Compound Heterozygous Mutations in theClinical case reports · 2026Article
- Imerslund-Gräsbeck syndrome presenting with a 12-year history of intermittent proteinuria and anemia: a case from the Middle East.BMC pediatrics · 2025Article
- Imerslund-Gräsbeck syndrome in a child with a novel compound heterozygous mutations in the AMN gene: a case report.Italian journal of pediatrics · 2024Article
- Acute cerebellar ataxia as the first manifestation of Imerslund-Gräsbeck syndrome.Iranian journal of child neurology · 2021Article
- Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.BMC medical genetics · 2020Article
- Structural assembly of the megadalton-sized receptor for intestinal vitamin BNature communications · 2018Article
- Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.Scientific reports · 2018Article
- A Drosophila model system to assess the function of human monogenic podocyte mutations that cause nephrotic syndrome.Human molecular genetics · 2017Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundImerslund-Gräsbeck Syndrome (IGS) is a rare autosomal recessive disease characterized by intestinal vitamin B12 malabsorption. Clinical features include megaloblastic anemia, recurrent infections, failure to thrive, and proteinuria. Recessive mutations in cubilin (CUBN) and in amnionless (AMN) have been shown to cause IGS. To date, there are only about 300 cases described worldwide with only 37 different mutations found in CUBN and 30 different in the AMN gene. CASE PRESENTATION: We collected pedigree structure, clinical data, and DNA samples from 2 Caucasian English half-sisters with IGS. Molecular diagnostics was performed by direct Sanger sequencing of all 62 exons of the CUBN gene and 12 exons of the AMN gene. Because of lack of parental DNA, cloning, and sequencing of multiple plasmid clones was performed to assess the allele of identified mutations. Genetic characterization revealed 2 novel compound heterozygous AMN mutations in both half-sisters with IGS. Trans-configuration of the mutations was confirmed.
conclusionWe have identified novel compound heterozygous mutations in AMN in a family from the United Kingdom with clinical features of Imerslund-Gräsbeck Syndrome.
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