Two Japanese patients with Leigh syndrome caused by novel SURF1 mutations

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• 作者：Junpei Tanigawa ; Kaori Kaneko ; Masakazu Honda ; Hiroko Harashima ; Kei Murayama ; Takahito Wada ; Kyoko Takano ; Mizue Iai ; Sumimasa Yamashita ; Hiroko Shimbo ; Noriko Aida ; Akira Ohtake ; Hitoshi Osaka
• 关键词：Leigh syndrome ; SURF1 deficiency ; Facial dysmorphism ; Hypertrichosis
• 刊名：Brain and Development
• 出版年：2012
• 出版时间：November, 2012
• 年：2012
• 卷：34
• 期：10
• 页码：861-865
• 全文大小：503 K

文摘

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.