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J Med Genet 2000;37:510-513 ( July )

Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)

David Watkinsa, Nora Matiaszuka, David S Rosenblatta b

a Division of Medical Genetics, Department of Medicine, McGill University Health Centre, Montreal, Quebec, Canada, b Departments of Medicine, Human Genetics, Pediatrics, and Biology, McGill University, Montreal, Quebec, Canada

Correspondence to: Dr Watkins, Division of Medical Genetics, Room H5-63, Royal Victoria Hospital, 687 Pine Avenue W, Montreal, Quebec H3A 1A1, Canada, dwatkins{at}generation.net

Revised version received 24 February 2000; Accepted for publication 8 March 2000

AIM---To investigate genetic heterogeneity within the cblA class of inborn error of cobalamin metabolism.
CONTEXT---The cblA disorder is characterised by vitamin B12 (cobalamin) responsive methylmalonic aciduria and deficient synthesis of adenosylcobalamin, required for activity of the mitochondrial enzyme methylmalonyl CoA mutase. The cblA gene has not been identified or cloned. We have previously described a patient with the clinical and biochemical phenotype of the cblA disorder whose fibroblasts complemented cells from patients with all known types of inborn error of adenosylcobalamin synthesis, including cblA.
METHODS---We have performed somatic cell complementation analysis of the cblA variant fibroblast line with a panel of 28 cblA lines. We have also performed detailed complementation analysis on a panel of 10 cblA fibroblast lines, not including the cblA variant line.
RESULTS---The cblA variant line complemented all 28 cell lines of the panel. There was evidence for interallelic complementation among the 10 cblA lines used for detailed complementation analysis; no cell line in this panel complemented all other members.
CONCLUSIONS---These results strongly suggest that the cblA variant represents a novel complementation class, which we have designated cblH and which represents a mutation at a distinct gene. They also suggest that the cblA gene encodes a protein that functions as a multimer, allowing for extensive interallelic complementation.


Keywords: cobalamin metabolism; complementation class; cblA; cblH

© 2000 by J Med Genet


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