De Meirleir Linda, Seneca Sara, Damis Eliane, Sepulchre Brigitte, Hoorens Anne, Gerlo Erik, García Silva M Teres, Hernandez Elena Martín, Lissens Willy, Van Coster Rudy
AZK-VUB Department of Pediatric Neurology, Brussels, Belgium.
Am J Med Genet A. 2003 Aug 30;121A(2):126-31. doi: 10.1002/ajmg.a.20171.
We investigated two siblings of a Spanish family presenting with congenital lactic acidosis. They had severe failure to thrive, liver dysfunction, and renal tubulopathy. An isolated biochemical complex III deficiency was detected in liver. A search for mutations in the human bc1 synthesis like (BCS1L) gene was undertaken. Direct sequencing revealed a missense mutation R45C and a nonsense mutation R56X, both located in exon 1 of BCS1L. The missense mutation in combination with a loss of function of the second allele is responsible for the isolated complex III deficiency in this family.
我们对一个患有先天性乳酸性酸中毒的西班牙家庭的两名兄弟姐妹进行了研究。他们严重发育不良、肝功能障碍和肾小管病变。在肝脏中检测到孤立的生化复合物III缺乏。对人类bc1合成样（BCS1L）基因的突变进行了搜索。直接测序显示了一个错义突变R45C和一个无义突变R56X，两者都位于BCS1L的外显子1中。错义突变与第二个等位基因功能丧失相结合导致了该家族中孤立的复合物III缺乏。
