Abstract
We report an Italian family in which the T-to-C point mutation at nucleotide 9176 of the mitochondrial adenosine triphosphate synthetase (mtATPase) 6 gene is associated with an early-onset fulminant form of Leigh syndrome and with sudden unexpected death in two siblings, respectively. Polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) analysis and direct sequencing revealed that the mutation was homoplasmic in mitochondrial DNA of the proband. The T9176C mutation changes a highly conserved leucine to a proline in subunit 6 of the mtATPase gene and is maternally inherited, but the maternal relatives are asymptomatic. This point mutation was initially described in two brothers with bilateral striatal necrosis, a milder variant of Leigh syndrome.
| Original language | English |
|---|---|
| Pages (from-to) | 2-8 |
| Number of pages | 7 |
| Journal | Journal of Inherited Metabolic Disease |
| Volume | 21 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 1998 |
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ASJC Scopus subject areas
- Endocrinology
- Genetics
- Genetics(clinical)
Cite this
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene. / Dionisi-Vici, C.; Seneca, S.; Zeviani, M.; Fariello, G.; Rlmoldi, M.; Bertini, E.; De Meirleir, L.
In: Journal of Inherited Metabolic Disease, Vol. 21, No. 1, 1998, p. 2-8.Research output: Contribution to journal › Article
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TY - JOUR
T1 - Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene
AU - Dionisi-Vici, C.
AU - Seneca, S.
AU - Zeviani, M.
AU - Fariello, G.
AU - Rlmoldi, M.
AU - Bertini, E.
AU - De Meirleir, L.
PY - 1998
Y1 - 1998
N2 - We report an Italian family in which the T-to-C point mutation at nucleotide 9176 of the mitochondrial adenosine triphosphate synthetase (mtATPase) 6 gene is associated with an early-onset fulminant form of Leigh syndrome and with sudden unexpected death in two siblings, respectively. Polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) analysis and direct sequencing revealed that the mutation was homoplasmic in mitochondrial DNA of the proband. The T9176C mutation changes a highly conserved leucine to a proline in subunit 6 of the mtATPase gene and is maternally inherited, but the maternal relatives are asymptomatic. This point mutation was initially described in two brothers with bilateral striatal necrosis, a milder variant of Leigh syndrome.
AB - We report an Italian family in which the T-to-C point mutation at nucleotide 9176 of the mitochondrial adenosine triphosphate synthetase (mtATPase) 6 gene is associated with an early-onset fulminant form of Leigh syndrome and with sudden unexpected death in two siblings, respectively. Polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) analysis and direct sequencing revealed that the mutation was homoplasmic in mitochondrial DNA of the proband. The T9176C mutation changes a highly conserved leucine to a proline in subunit 6 of the mtATPase gene and is maternally inherited, but the maternal relatives are asymptomatic. This point mutation was initially described in two brothers with bilateral striatal necrosis, a milder variant of Leigh syndrome.
UR - http://www.scopus.com/inward/record.url?scp=0031965039&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031965039&partnerID=8YFLogxK
U2 - 10.1023/A:1005397227996
DO - 10.1023/A:1005397227996
M3 - Article
C2 - 9501263
AN - SCOPUS:0031965039
VL - 21
SP - 2
EP - 8
JO - Journal of Inherited Metabolic Disease
JF - Journal of Inherited Metabolic Disease
SN - 0141-8955
IS - 1
ER -