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All affected members of the families have an identical mutation in this gene, mutations of which are recognized causes of Bj\u00f6rnstad syndrome, GRACILE syndrome and a syndrome of neonatal tubulopathy, encephalopathy, and liver failure (MIM 606104) leading to isolated mitochondrial respiratory chain complex III deficiency. Here we report the appearance of a novel behavioral (five patients) and psychiatric (two patients) phenotype associated with a p.Gly129Arg <jats:italic>BCS1L<\/jats:italic> mutation, differing from the phenotype in a previously reported singleton patient with this mutation. The psychiatric symptoms emanated after childhood, initially as hypomania later evolving into intermittent psychosis. Neuroradiological findings included subtle white matter abnormalities, whilst muscle histopathology and respiratory chain studies confirmed respiratory chain dysfunction. The variable neuro\u2010psychiatric manifestations and cortical visual dysfunction are most unusual and not reported associated with other <jats:italic>BCS1L<\/jats:italic> mutations. This report emphasizes the clinical heterogeneity associated with the mutation in <jats:italic>BCS1L<\/jats:italic> gene, even within the same family and we recommend that defects in this gene should be considered in the differential diagnosis of lactic acidosis with variable involvement of different organs.<\/jats:p>","DOI":"10.1007\/s10545-012-9536-4","type":"journal-article","created":{"date-parts":[[2012,9,18]],"date-time":"2012-09-18T12:39:35Z","timestamp":1347971975000},"page":"813-820","source":"Crossref","is-referenced-by-count":28,"title":["Clinical and biochemical features associated with <i>BCS1L<\/i> mutation"],"prefix":"10.1002","volume":"36","author":[{"given":"Mohammed","family":"Al\u2010Owain","sequence":"first","affiliation":[{"name":"Department of Medical Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia"},{"name":"Alfaisal University Riyadh Saudi 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