Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis.
We developed a mutation-screening protocol for the ASS1 gene in order to guide clinical management of neonates with elevated citrulline detected during routine newborn screening. An exon-based amplification and sequencing method was designed and successfully applied to patients to identify disease-associated mutations. The sequencing-based method was applied to three patients with mild or asymptomatic clinical courses. Identification of a homozygous mutation in these patients, c.787G>A (p.Val263Met), led to the development of a tetra-primer ARMS-PCR method that successfully detected the mutation in DNA extracted from blood or from Guthrie card spots.
Marquis-Nicholson
R
R
Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand.
Glamuzina
E
E
Prosser
D
D
Wilson
C
C
Love
D R
DR
D001124:Argininosuccinate Synthase / Q000235:genetics*; D020159:Citrullinemia / Q000175:diagnosis* / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D016133:Polymerase Chain Reaction
D001124:Argininosuccinate Synthase