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http://purl.uniprot.org/citations/26040326http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26040326http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/26040326http://www.w3.org/2000/01/rdf-schema#comment"

Background

Imerslund-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.

Conclusion

We have identified novel compound heterozygous mutations in AMN in a family from the United Kingdom with clinical features of Imerslund-Gräsbeck Syndrome."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.org/dc/terms/identifier"doi:10.1186/s12881-015-0181-2"xsd:string
http://purl.uniprot.org/citations/26040326http://purl.org/dc/terms/identifier"doi:10.1186/s12881-015-0181-2"xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/author"Johnson S."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/author"Johnson S."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/author"Sayer J.A."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/author"Sayer J.A."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/author"Otto E.A."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/author"Otto E.A."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/author"Baines L.A."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/author"Baines L.A."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/author"Goodship J.A."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/author"Goodship J.A."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/author"Hynes A.M."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/author"Hynes A.M."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/author"Montgomery E."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/author"Montgomery E."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/author"Vega-Warner V."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/author"Vega-Warner V."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/date"2015"xsd:gYear
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/name"BMC Med. Genet."xsd:string
http://purl.uniprot.org/citations/26040326http://purl.uniprot.org/core/name"BMC Med. Genet."xsd:string
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