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Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/ CD320 , the gene for cellular uptake of transcobalamin‐bound vitamin B 12
Author(s) -
Quadros Edward V.,
Lai ShaoChiang,
Nakayama Yasumi,
Sequeira Jeffrey M.,
Hannibal Luciana,
Wang Sihe,
Jacobsen Donald W.,
Fedosov Sergey,
Wright Erica,
Gallagher Renata C.,
Anastasio Natascia,
Watkins David,
Rosenblatt David S.
Publication year - 2010
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21297
Subject(s) - biology , cobalamin , methylmalonic acid , hum , gene , vitamin b12 , mutation , genetics , exon , stop codon , microbiology and biotechnology , biochemistry , performance art , art history , art
Elevated methylmalonic acid in five asymptomatic newborns whose fibroblasts showed decreased uptake of transcobalamin‐bound cobalamin (holo‐TC), suggested a defect in the cellular uptake of cobalamin. Analysis of TCblR/ CD320 , the gene for the receptor for cellular uptake of holo‐TC, identified a homozygous single codon deletion, c.262_264GAG (p.E88del), resulting in the loss of a glutamic acid residue in the low‐density lipoprotein receptor type A‐like domain. Inserting the codon by site‐directed mutagenesis fully restored TCblR function. Hum Mutat 31:1–6, 2010. © 2010 Wiley‐Liss, Inc.