Reply: ‘Behr syndrome’ with OPA1 compound heterozygote mutations

Reply: ‘Behr syndrome’ with OPA1 compound heterozygote mutations

Sir, The current report by Carelli and colleagues is a timely contribution the literature on autosomal dominant optic atrophy (DOA) (Carelli et al., 2014). Similar to a recently published Letter to the Editor in Brain by Bonneau et al. (2014), they describe the intriguing association of a Behr-like phenotype in an Italian family harbouring presumed compound heterozygous OPA1 mutations. The majo...

LETTER TOTHE EDITOR ‘Behr syndrome’ with OPA1 compound heterozygote mutations

1 IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy 2 Neurology Unit, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy 3 Institute of Neurology, Catholic University, Rome, Italy 4 Laboratory of Molecular Medicine, Research Children’s Hospital ‘Bambino Gesù’, Rome, Italy 5 Molecular Genetics Laboratory, Institu...

Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

Sir, Autosomal dominant optic atrophy (DOA) is the most commonly diagnosed inherited optic neuropathy in clinical practice and the majority of patients harbour pathogenic mutations within the OPA1 gene (3q28-q29, OMIM 165500) (Yu-Wai-Man and Chinnery, 2013). OPA1 is a multifunctional protein located within the mitochondrial inner membrane and it regulates a number of critical cellular functions...

LETTER TO THE EDITOR Reply: Early-onset Behr syndrome due to compound heterozygous mutations in OPA1

LETTER TO THE EDITOR Heterozygous OPA1 mutations in Behr syndrome

1 Université Pierre et Marie Curie-Paris6, Centre de Recherche de l’Institut du Cerveau et de la Moelle Épinière, UMR-S975, Paris, France 2 INSERM U975, Paris, France 3 CNRS, UMR 7225, Paris, France 4 AP-HP Department of Genetics and Cytogenetics, Hôpital de la Salpêtrière, F-75013, Paris, France 5 Département de Biochimie et Génétique, Centre Hospitalier Universitaire, Angers, France 6 Départe...