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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Clinical and biochemical features associated with BCS1L mutation
Journal of Inherited Metabolic Disease, Volume 36, No. 5, Year 2013
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Description
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. Here we report the appearance of a novel behavioral (five patients) and psychiatric (two patients) phenotype associated with a p.Gly129Arg BCS1L 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-psychiatric manifestations and cortical visual dysfunction are most unusual and not reported associated with other BCS1L mutations. This report emphasizes the clinical heterogeneity associated with the mutation in BCS1L 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. © 2012 SSIEM and Springer.
Authors & Co-Authors
Al-Owain, Mohammed Abdulaziz
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
Alfaisal University
Çolak, Dilek
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Bakheet, Al Bandary
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Younes, Banan
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Humaidi, Zainab
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Sayed, Moeen Aldeen A.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Hindi, Hindi Nasser
Saudi Arabia, Riyadh
Laboratory Medicine
Al-Sugair, Abdulaziz Saleh
Saudi Arabia, Riyadh
King Fahad Heart Institute
Al-Muhaideb, Ahmed
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Rahbeeni, Zuhair Abdalla
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Sehli, Abdullah
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Fadhli, Fatima
Unknown Affiliation
Özand, Pinard T.
Turkey, Istanbul
Yıldız Teknik Üniversitesi
Taylor, Robert William
United Kingdom, Newcastle
Wellcome Trust Centre for Mitochondrial Research
Kaya, Namik
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Statistics
Citations: 33
Authors: 15
Affiliations: 6
Identifiers
Doi:
10.1007/s10545-012-9536-4
ISSN:
01418955
e-ISSN:
15732665
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health
Mental Health