Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B-12 metabolism

作者：Miousse Isabelle R^*; Watkins David; Rosenblatt David S

来源：Molecular Genetics and Metabolism, 2011, 102(4): 505-507.

DOI：10.1016/j.ymgme.2011.01.002

• cblF
• Cobalamin
• Lysosome
• LMBRD1
• Homocysteine
• Methylmalonic acid

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.

• 出版日期2011-4