Clinical and diagnostic characteristics of complex III deficiency due to mutations in the <i>BCS1L</i> gene

American Journal of Medical Genetics, Part A - Tập 121A Số 2 - Trang 126-131 - 2003
Linda De Meirleir1, Sara Seneca2, Eliane Damis3, Brigitte Sepulchre3, Anne Hoorens4, Erik Gerlo5, M. Teres García Silva6, Elena Martín Hernández6, Willy Lissens2, Rudy Van Coster7
1Department of Pediatric Neurology, Brussels, Belgium
2Medical Genetics, Free University of Brussels, Brussels, Belgium
3Pediatrics Cavell, Brussels, Belgium
4Pathology Free University of Brussels, Brussels, Belgium
5Clinical Chemistry, Free University of Brussels, Brussels, Belgium
6Department of Pediatrics Hospital Doce de Octobre, Madrid, Spain
7Pediatric Neurology University of Ghent, Ghent, Belgium

Tóm tắt

AbstractWe 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. © 2003 Wiley‐Liss, Inc.

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Thông tin
Thông tin xuất bản

American Journal of Medical Genetics, Part A

Tập 121A Số 2

126-131

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