{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,20]],"date-time":"2026-02-20T00:53:14Z","timestamp":1771548794222,"version":"3.50.1"},"reference-count":42,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,1,25]],"date-time":"2021-01-25T00:00:00Z","timestamp":1611532800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Introduction<\/jats:title><jats:p>Imerslund\u2010Gr\u00e4sbeck syndrome (IGS) is a rare autosomal\u2010recessive disorder characterized by selective vitamin B12 malabsorption, megaloblastic anemia, and proteinuria. The precise incidence of this disorder is unknown in the Middle East and Arab countries. The disease is caused by a homozygous variant in either <jats:italic>AMN<\/jats:italic> or <jats:italic>CUBN<\/jats:italic> genes. In addition, some compound heterozygous variants are reported.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Clinical and laboratory data of patients diagnosed with IGS in Oman were retrospectively collected. Mutation analysis for all genes involved in vitamin B12\/folic acid metabolism and megaloblastic anemia was conducted using next\u2010generation sequencing (NGS).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Three siblings (2 girls and a boy) have been diagnosed with the condition. They exhibit a phenotypic variability with different age of presentation and different spectrum of disease. All patients harbor a novel biallelic frameshift mutation in exon 11 of <jats:italic>AMN<\/jats:italic> gene (p.Pro409Glyfs*), which was not reported previously in the literature. Both parents are heterozygotes for the same variant. All patients responded well to vitamin B12 parenteral therapy, but proteinuria persisted.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In communities with high incidence of consanguinity, cases of early\u2010onset vitamin B12 deficiency should be thoroughly investigated to explore the possibility of Imerslund\u2010Gr\u00e4sbeck syndrome and other vitamin B12\u2013related hereditary disorders. Further local and regional studies are highly recommended.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ijlh.13473","type":"journal-article","created":{"date-parts":[[2021,1,25]],"date-time":"2021-01-25T08:41:18Z","timestamp":1611564078000},"page":"1009-1015","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Clinical and molecular characteristics of imerslund\u2010gr\u00e4sbeck syndrome: First report of a novel Frameshift variant in Exon 11 of AMN gene"],"prefix":"10.1111","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1351-2123","authenticated-orcid":false,"given":"Mohamed","family":"Elshinawy","sequence":"first","affiliation":[{"name":"Department of Child Health Pediatric Hematology\/Oncology Sultan Qaboos University Hospital Muscat Oman"},{"name":"Department of Pediatrics Pediatric Hematology\/Oncology Faculty of Medicine University of Alexandria Alexandria 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