title: Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.
abstract: The cblF disorder, characterized by accumulation of internalized cobalamin in the lysosome, is caused by mutations in the LMBRD1 gene which encodes an integral lysosomal membrane protein. We describe novel mutations in LMBRD1 in three patients: two splice site mutations, c.916-1G>T and c.1339-1G>T, and a 6785 bp deletion encompassing exon 2, c.70-4298_246+2311del6785. The three patients are compound heterozygotes for one novel mutation and the common c.1056delG mutation.
authors.affiliation: Department of Human Genetics, McGill University, Montreal, Canada.
authors.forename: Isabelle R
authors.initials: IR
authors.lastname: Miousse
authors.forename: David
authors.initials: D
authors.lastname: Watkins
authors.forename: David S
authors.initials: DS
authors.lastname: Rosenblatt
mesh_terms: D005091:Exons; D016368:Frameshift Mutation; D056726:Genetic Association Studies; D005820:Genetic Testing; D006579:Heterozygote; D006801:Humans; D020138:Hyperhomocysteinemia / Q000151:congenital; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000235:genetics*; D008764:Methylmalonic Acid / Q000097:blood / Q000652:urine; D029543:Nucleocytoplasmic Transport Proteins / Q000235:genetics*; D020033:Protein Isoforms / Q000235:genetics*; D017384:Sequence Deletion; D014805:Vitamin B 12 / Q000378:metabolism*
chemical_list: C502888:LMBRD1 protein, human; D029543:Nucleocytoplasmic Transport Proteins; D020033:Protein Isoforms; D008764:Methylmalonic Acid; D014805:Vitamin B 12