Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).
Hum Mutat
; 31(8): 924-9, 2010 Aug.
Article
en En
| MEDLINE
| ID: mdl-20524213
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Vitamina B 12
/
Transcobalaminas
/
Antígenos CD
/
Tamizaje Neonatal
/
Errores Innatos del Metabolismo
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Infant
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
Hum Mutat
Asunto de la revista:
GENETICA MEDICA
Año:
2010
Tipo del documento:
Article
País de afiliación:
Estados Unidos