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.
Angaroni
Celia J
CJ
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
Labrune
Philippe
P
Petit
François
F
Sastre
Dario
D
Capra
Ana E
AE
Dodelson de Kremer
Raquel
R
Argaraña
Carlos E
CE
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