title: Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations.
abstract: We report two patients with Leigh syndrome that showed a combination of facial dysmorphism and MRI imaging indicating an SURF1 deficiency, which was confirmed by sequence analysis. Case 1 is a 3-year-old girl with failure to thrive and developmental delay. She presented with tachypnea at rest and displayed facial dysmorphism including frontal bossing, lateral displacement of inner canthi, esotropia, maxillary hypoplasia, slightly upturned nostril, and hypertrichosis dominant on the forehead and extremities. Case 2 is an 8-year-old boy with respiratory failure. He had been diagnosed as selective complex IV deficiency. Case 2 displayed facial dysmorphism and hypertrichosis. Since both patients displayed characteristic facial dysmorphism and MRI findings, we sequenced the SURF1 gene and identified two heterozygous mutations; c.49+1 G>T and c.752_753del in Case 1, and homozygous c.743 C>A in Case 2. For patients with Leigh syndrome showing these facial dysmorphism and hypertrichosis, sequence analysis of the SURF1 gene may be useful.
authors.affiliation: Division of Neurology, Kanagawa Children's Medical Center, Minami-ku, Yokohama 232-8555, Japan.
authors.forename: Junpei
authors.initials: J
authors.lastname: Tanigawa
authors.forename: Kaori
authors.initials: K
authors.lastname: Kaneko
authors.forename: Masakazu
authors.initials: M
authors.lastname: Honda
authors.forename: Hiroko
authors.initials: H
authors.lastname: Harashima
authors.forename: Kei
authors.initials: K
authors.lastname: Murayama
authors.forename: Takahito
authors.initials: T
authors.lastname: Wada
authors.forename: Kyoko
authors.initials: K
authors.lastname: Takano
authors.forename: Mizue
authors.initials: M
authors.lastname: Iai
authors.forename: Sumimasa
authors.initials: S
authors.lastname: Yamashita
authors.forename: Hiroko
authors.initials: H
authors.lastname: Shimbo
authors.forename: Noriko
authors.initials: N
authors.lastname: Aida
authors.forename: Akira
authors.initials: A
authors.lastname: Ohtake
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Osaka
mesh_terms: D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D005183:Failure to Thrive / Q000235:genetics; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics; D007888:Leigh Disease / Q000235:genetics*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010641:Phenotype
chemical_list: D008565:Membrane Proteins; D024101:Mitochondrial Proteins; C092928:Surf-1 protein