Database: PubMedEntry: 10647889
Original site: 10647889
Teraoka M, Yokoyama Y, Ninomiya S, Inoue C, Yamashita S, Seino Y.
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase
Hum Genet. 1999 Dec;105(6):560-3. doi: 10.1007/s004399900191.
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.
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