PMID- 10447650
OWN - NLM
STAT- MEDLINE
DCOM- 19991013
LR  - 20190905
IS  - 0721-832X (Print)
IS  - 0721-832X (Linking)
VI  - 237
IP  - 9
DP  - 1999 Sep
TI  - Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a
      patient with a new mutation in the ND6 gene.
PG  - 745-52
AB  - BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a maternally inherited 
      ocular disease associated with mutations in the mitochondrial DNA (mtDNA). We
      describe the clinical and molecular genetic findings in a LHON patient and his
      family with a new mtDNA mutation at np14568 in the ND6 gene. METHODS:
      Ophthalmological examination was performed in one affected male and two maternal 
      relatives. Direct sequence analysis of the complete mtDNA protein coding region
      was initiated in the affected patient. Four unaffected maternal relatives also
      underwent molecular genetic evaluation. RESULTS: Clinical examination of the
      affected male showed typical features of LHON. In his unaffected mother slight
      peripapillary microangiopathy was found. Molecular analysis did not show any of
      the common LHON mutations. A nucleotide exchange was detected at position 14568
      replacing a glycine by serine in the ND6 gene. This mutation was the only new
      mutation found within the entire protein and tRNA coding region of the patient's 
      mitochondrial genome. This novel mutation was also present in four non-affected
      maternal family members, but absent in 60 other LHON lineages and 175 unrelated
      controls. CONCLUSION: The new mutation at nucleotide position 14568 lies in the
      close vicinity of other LHON-related mutations (np14459, np14484, np14498,
      np14596) within the evolutionarily most conserved region of the ND6 gene. Since
      no other mutation was detected throughout the mtDNA coding region and the new
      alteration was excluded in controls, our clinical and molecular genetic findings 
      suggest that the novel point mutation at np14568 is responsible for LHON in this 
      family.
FAU - Besch, D
AU  - Besch D
AD  - Abteilung fur Pathophysiologie des Sehens und Neuroophthalmologie,
      Universitats-Augenklinik, Schleichstrasse 12, D-72076 Tubingen, Germany,
      dorothea.besch@uni-tuebingen.de
FAU - Leo-Kottler, B
AU  - Leo-Kottler B
FAU - Zrenner, E
AU  - Zrenner E
FAU - Wissinger, B
AU  - Wissinger B
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Germany
TA  - Graefes Arch Clin Exp Ophthalmol
JT  - Graefe's archive for clinical and experimental ophthalmology = Albrecht von
      Graefes Archiv fur klinische und experimentelle Ophthalmologie
JID - 8205248
RN  - 0 (DNA, Mitochondrial)
SB  - IM
MH  - Adolescent
MH  - Amino Acid Sequence/genetics
MH  - DNA, Mitochondrial/genetics
MH  - Electroretinography
MH  - Evoked Potentials, Visual
MH  - Fundus Oculi
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - Optic Atrophies, Hereditary/*genetics/pathology/*physiopathology
MH  - Pedigree
MH  - Point Mutation/*genetics
MH  - Visual Acuity
MH  - Visual Fields
EDAT- 1999/08/14 00:00
MHDA- 1999/08/14 00:01
CRDT- 1999/08/14 00:00
PHST- 1999/08/14 00:00 [pubmed]
PHST- 1999/08/14 00:01 [medline]
PHST- 1999/08/14 00:00 [entrez]
AID - 92370745.417 [pii]
AID - 10.1007/s004170050307 [doi]
PST - ppublish
SO  - Graefes Arch Clin Exp Ophthalmol. 1999 Sep;237(9):745-52. doi:
      10.1007/s004170050307.