PMID- 10647889
OWN - NLM
STAT- MEDLINE
DCOM- 20000216
LR  - 20190722
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 105
IP  - 6
DP  - 1999 Dec
TI  - Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase
      deficiency.
PG  - 560-3
AB  - Cytochrome c oxidase (COX) deficiency is the most common cause of Leigh syndrome 
      (LS). COX consists of ten nuclear-encoded and three mtDNA-encoded structural
      subunits. Although the nucleotide sequences of all 13 genes are known, no
      mutation was found in nuclear-encoded subunit genes of COX-deficiency patients.
      Zhu et al. (1998) and Tiranti et al. (1998) found nine mutations in the surfeit 1
      (SURF1) gene in LS families with COX deficiency. The mouse surfeit gene cluster
      consists of six closely spaced housekeeping genes unrelated by sequence homology.
      Except for the Surf3 gene, the function is still not known. The juxtaposition of 
      at least five of the surfeit genes is conserved between birds and mammals. We
      identified two novel mutations of SURF1 in a Japanese LS patient with COX
      deficiency using direct sequencing analysis. Firstly, a 2-bp deletion at
      nucleotide position 790 (790delAG) in exon 8 was found, which shifts the reading 
      frame such that the mutant protein has a completely different amino acid sequence
      from codon 264 to the premature stop codon at 290. Secondly, we found a T-to-G
      transversion at nucleotide 820, resulting in the substitution of tyrosine by
      aspartic acid at codon 274 (Y274D). We also studied the parents' genes, and found
      that the Y274D mutation was in his father and the 790delAG mutation was in his
      mother heterozygously. Therefore, we concluded that the patient was a compound
      heterozygote with these mutations. These are the first pathogenetic SURF1
      mutations identified in a Japanese family.
FAU - Teraoka, M
AU  - Teraoka M
AD  - Department of Pediatrics, Okayama University Medical School, Japan.
      asd@med.okayama-u.ac.jp
FAU - Yokoyama, Y
AU  - Yokoyama Y
FAU - Ninomiya, S
AU  - Ninomiya S
FAU - Inoue, C
AU  - Inoue C
FAU - Yamashita, S
AU  - Yamashita S
FAU - Seino, Y
AU  - Seino Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Membrane Proteins)
RN  - 0 (Mitochondrial Proteins)
RN  - 0 (Proteins)
RN  - 0 (Surf-1 protein)
SB  - IM
MH  - Amino Acid Substitution
MH  - Biopsy
MH  - *Cytochrome-c Oxidase Deficiency
MH  - Exons
MH  - Frameshift Mutation
MH  - Heterozygote
MH  - Humans
MH  - Leigh Disease/*genetics
MH  - Male
MH  - Membrane Proteins
MH  - Mitochondrial Proteins
MH  - Point Mutation
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Restriction Fragment Length
MH  - Proteins/*genetics
MH  - Sequence Analysis, DNA
EDAT- 2000/01/27 09:00
MHDA- 2000/02/19 09:00
CRDT- 2000/01/27 09:00
PHST- 2000/01/27 09:00 [pubmed]
PHST- 2000/02/19 09:00 [medline]
PHST- 2000/01/27 09:00 [entrez]
AID - 10.1007/s004399900191 [doi]
PST - ppublish
SO  - Hum Genet. 1999 Dec;105(6):560-3. doi: 10.1007/s004399900191.