ArticleJournal of inherited metabolic disease2010
A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.
Article in Journal of inherited metabolic disease, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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16 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.Journal of inherited metabolic disease · 2015Pooled it
- Metabolic mimic of inherited bone marrow failure: LMBRD1 (cblF) deficiency in an infant.International journal of hematology · 2026Article
- Genome-wide selection and association analyses implicate retinal and reproductive genes in laying-period variation of domestic geese.Poultry science · 2026Article
- Phenotype puzzle: the role of novel LMBRD1 gene variant in Cbl deficiency causing Dyskeratosis Congenita-like clinical manifestations.Journal of human genetics · 2025Article
- Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita.JAAD case reports · 2020Article
- Effect of imbalance in folate and vitamin B12 in maternal/parental diet on global methylation and regulatory miRNAs.Scientific reports · 2019Article
- Transcellular transport of cobalamin in aortic endothelial cells.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2018Article
- Association between MTHFR 677C>T Polymorphism and Vitamin B12 Deficiency: A Case-control Study.Journal of medical biochemistry · 2018Article
- Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin BThe Journal of biological chemistry · 2017Article
- Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Journal of inherited metabolic disease · 2017Review
- Methylmalonic Acidemia Diagnosis by Laboratory Methods.Reports of biochemistry & molecular biology · 2016Article
- A New, Atypical Case of Cobalamin F Disorder Diagnosed by Whole Exome Sequencing.Molecular syndromology · 2016Article
- The DAO gene is associated with schizophrenia and interacts with other genes in the Taiwan Han Chinese population.PloS one · 2013Article
- LMBRD1: the gene for the cblF defect of vitamin B₁₂ metabolism.Journal of inherited metabolic disease · 2011Review
- Genetic disorders of vitamin B₁₂ metabolism: eight complementation groups--eight genes.Expert reviews in molecular medicine · 2010Review
- Insights into lysosomal cobalamin trafficking: lessons learned from cblF disease.Journal of molecular medicine (Berlin, Germany) · 2010Review
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Authors and funding
10 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In the cblF defect of vitamin B(12) (cobalamin) metabolism, cobalamin is trapped in lysosomes. Consequently, cobalamin coenzyme synthesis is blocked, and cofactors for methionine synthase and methylmalonyl-coenzyme A (CoA) mutase are deficient. We recently identified LMBRD1 as the causative gene located on chromosome 6q13 and showed that 18 out of 24 alleles in unrelated patients carried the deletion c.1056delG (p.L352fsX18) (Rutsch et al. (Nat Genet 41:234-239, 2009). LMBRD1 encodes the lysosomal membrane protein LMBD1, which presumably facilitates lysosomal cobalamin export. Our patient is the second child of consanguineous Turkish parents. He presented on the second day of life with cerebral seizures due to intraventricular hemorrhage. Plasma homocysteine and urinary methylmalonic acid levels were elevated, and serum cobalamin level was decreased. Synthesis of both cobalamin coenzymes was deficient in cultured skin fibroblasts. The cblF defect was confirmed by somatic complementation analysis. Sequencing of LMBRD1 revealed the novel deletion c.1405delG (p.D469fsX38) on both alleles. Real-time polymerase chain reaction (PCR) revealed reduced messenger RNA (mRNA) levels in patient fibroblasts compared with controls. Transfection of patient fibroblasts with the LMBD1 wild-type complement DNA (cDNA) rescued coenzyme synthesis and function, confirming this new deletion as an additional cause of the cblF defect. This case adds to the spectrum of clinical presentations and mutations of this rare disorder of lysosomal transport.
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