title: Citrullinemia type I: molecular screening of the ASS1 gene by exonic sequencing and targeted mutation analysis.
abstract: 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.
authors.affiliation: Diagnostic Genetics, LabPLUS, Auckland City Hospital, Auckland, New Zealand.
authors.forename: R
authors.initials: R
authors.lastname: Marquis-Nicholson
authors.forename: E
authors.initials: E
authors.lastname: Glamuzina
authors.forename: D
authors.initials: D
authors.lastname: Prosser
authors.forename: C
authors.initials: C
authors.lastname: Wilson
authors.forename: D R
authors.initials: DR
authors.lastname: Love
mesh_terms: 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
chemical_list: D001124:Argininosuccinate Synthase