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Mutation analysis in 16 patients with mtDNA depletion
Author(s) -
Carrozzo R.,
Bornstein B.,
Lucioli S.,
Campos Y.,
de la Pena P.,
Petit N.,
DionisiVici C.,
Vilarinho L.,
Rizza T.,
Bertini E.,
Garesse R.,
Santorelli F.M.,
Arenas J.
Publication year - 2003
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9135
Subject(s) - biology , genetics , mitochondrial dna , gene , phenotype , genotype , mutation , genotype phenotype distinction
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. © 2003 Wiley‐Liss, Inc.