Glu274Lys/Gly309Arg mutation of the tissue-nonspecific alkaline phosphatase gene in neonatal hypophosphatasia associated with convulsions.
J Inherit Metab Dis
; 25(1): 35-40, 2002 Feb.
Article
em En
| MEDLINE
| ID: mdl-11999978
ABSTRACT
We describe a patient diagnosed with lethal perinatal hypophosphatasia with a unique clinical presentation of convulsions that responded to vitamin B6. Genomic DNA sequence analysis of the tissue-nonspecific alkaline phosphatase (TNSALP) gene revealed two missense mutations a G-to-A transition resulting in a Glu to Lys at codon 274 (E274K), and a G-to-C transversion resulting in a Gly to Arg at codon 309 (G309R). The first mutation was maternally transmitted and was previously characterized as a moderate one, whereas the latter was paternally transmitted and has not been previously reported. Phenotype/genotype correlation indicates that G309R is a deleterious mutation that can lead to seizures and a lethal outcome, as was demonstrated in our patient.
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Base de dados:
MEDLINE
Assunto principal:
Convulsões
/
Mutação de Sentido Incorreto
/
Fosfatase Alcalina
/
Hipofosfatasia
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article