title: Mutation analysis in 16 patients with mtDNA depletion.
abstract: Sixteen unrelated Southern European patients with the mitochondrial depletion syndrome (MDS) were analyzed for mutations in the TK2 and DGUOK genes. Three novel mutations were identified in TK2 (R183G, R254X, and 142insG). When we analyzed additional genes involved in the dNTPs pool, such as SLC25A19 (DNC) and NT5M (d-NT2), we did not detect mutations. The current study suggest that scanning the TK2, DGUOK, SLC25A19, and NT5M genes is likely to help about 10% of MDS families in terms of genetic counseling. Also, our findings indicate that genotype-phenotype correlations are not straightforward in MDS.
authors.affiliation: Unit of Molecular Medicine, Children's Hospital Bambino Gesù, Rome, Italy. carrozzo@opbg.net
authors.forename: R
authors.initials: R
authors.lastname: Carrozzo
authors.forename: B
authors.initials: B
authors.lastname: Bornstein
authors.forename: S
authors.initials: S
authors.lastname: Lucioli
authors.forename: Y
authors.initials: Y
authors.lastname: Campos
authors.forename: P
authors.initials: P
authors.lastname: de la Pena
authors.forename: N
authors.initials: N
authors.lastname: Petit
authors.forename: C
authors.initials: C
authors.lastname: Dionisi-Vici
authors.forename: L
authors.initials: L
authors.lastname: Vilarinho
authors.forename: T
authors.initials: T
authors.lastname: Rizza
authors.forename: E
authors.initials: E
authors.lastname: Bertini
authors.forename: R
authors.initials: R
authors.lastname: Garesse
authors.forename: F M
authors.initials: FM
authors.lastname: Santorelli
authors.forename: J
authors.initials: J
authors.lastname: Arenas
mesh_terms: D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis / Q000379:methods; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism*; D005060:Europe; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008931:Mitochondria, Muscle / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D028361:Mitochondrial Diseases / Q000201:enzymology / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D009154:Mutation; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D012189:Retrospective Studies; D013577:Syndrome; D013937:Thymidine Kinase / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D017853:Phosphotransferases (Alcohol Group Acceptor); C105339:thymidine kinase 2; C019165:deoxyguanosine kinase; D013937:Thymidine Kinase