LMBRD1 was first reported in relation to autosomal recessive inheritance of methylmalonic aciduria and homocystinuria type cblF in 2009 (Rutsch F, et al. PMID: 19136951). At least 10 unique loss of function variants (including nonsense, frameshift, and splicing) have been reported in humans. Evidence supporting this gene-disease relationship includes case-level data and experimental data. Variants in this gene have been reported in at least 10 probands in 4 publications (PMIDs: 19136951, 32875039, 20127417, 21303734). This gene-disease relationship is supported by experimental evidence of the biochemical function in transport of ABCD4 for delivery of lysosomal vitamin B(12) to cytoplasmic MMACHC, consistent with the elevated methylmalonic acid and homocysteine phenotypes (PMID: 27456980), and rescue of the biochemical cblF phenotype in patient cells transfected with a wild-type construct (PMID: 19136951). In summary, LMBRD1 is definitively associated with autosomal recessive inheritance of methylmalonic aciduria and homocystinuria type cblF.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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