Glycogen storage disease type Ib without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene.
A new splicing site substitution (c.985-1G>C) in the glucose-6-phosphate translocase (G6PT1) gene was detected in both alleles of an Argentinean patient. This mutation was associated with an unusual GSD-Ib phenotype without neutropenia. A PCR-based cDNA analysis showed that the c.985-1G>C mutation produced two abnormal spliced G6PT1 transcripts both encoding hypothetical truncated proteins.
Centro de Estudio de las Metabolopatías Congénitas, CEMECO, Hospital de Niños de la Santísima Trinidad, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Córdoba, Argentina. celiangaroni@hotmail.com
Celia J
CJ
Angaroni
Philippe
P
Labrune
François
F
Petit
Dario
D
Sastre
Ana E
AE
Capra
Raquel
R
Dodelson de Kremer
Carlos E
CE
Argaraña
D000293:Adolescent; D000328:Adult; D017398:Alternative Splicing; D000595:Amino Acid Sequence; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005260:Female; D019298:Glucose-6-Phosphate / Q000378:metabolism*; D005953:Glycogen Storage Disease Type I / Q000235:genetics*; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D009503:Neutropenia / Q000235:genetics; D017354:Point Mutation; D022821:RNA Splice Sites / Q000235:genetics
D026901:Membrane Transport Proteins; D022821:RNA Splice Sites; D019298:Glucose-6-Phosphate