Mohammed Al-Owain, Dilek Colak, Albandary Albakheet, Banan Al-Younes, Zainab Al-Humaidi, Moeen Al-Sayed, Hindi Al-Hindi, Abdulaziz Al-Sugair, Ahmed Al-Muhaideb, Zuhair Rahbeeni, Abdullah Al-Sehli, Fatima Al-Fadhli, Pinar T Ozand, Robert W Taylor, Namik Kaya
Our study describes a novel phenotype in a series of nine Saudi patients with lactic acidosis, from four consanguineous families three of which are related. Detailed genetic studies including linkage, homozygosity mapping and targeted sequencing identified a causative mutation in the BCS1L gene. All affected members of the families have an identical mutation in this gene, mutations of which are recognized causes of Björnstad syndrome, GRACILE syndrome and a syndrome of neonatal tubulopathy, encephalopathy, and liver failure (MIM 606104) leading to isolated mitochondrial respiratory chain complex III deficiency...
September 2013: Journal of Inherited Metabolic Disease