Profound vitamin D deficiency in four siblings with Imerslund-Grasbeck syndrome with homozygous CUBN mutation.

ABSTRACT: Imerslund-Grasbeck syndrome (IGS, OMIM 261100) is a rare autosomal recessive disease characterized by vitamin B12 malabsorption resulting in megaloblastic anemia and asymptomatic proteinuria. IGS is caused by bi-allelic mutations in either CUBN or AMN that respectively encode the cubilin and amnionless subunits of the cobalamin-intrinsic factor receptor. We report four siblings (three boys, one girl) of non-consanguineous parents of Jewish background, aged 10 months to 12 years, with homozygous CUBN frameshift c.2614_2615deIGA p.(Asp872LeufisTer3) mutation and typical features of IGS. The two older brothers presented in early infancy with lethargy, mouth ulcerations, eosinophilic enterocolitis, megaloblastic anemia and failure to thrive. Investigations revealed low serum cobalamin levels.

SUBMITTER: Ciancio JIR 

PROVIDER: S-EPMC6718117 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature