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

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

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1

Mutations in the optic atrophy 1 gene (OPA1) are associated with autosomal dominant optic atrophy and 20% of patients demonstrate extra-ocular manifestations. In addition to these autosomal dominant cases, only a few syndromic cases have been reported thus far with compound heterozygous OPA1 mutations, suggestive of either recessive or semi‑dominant patterns of inheritance. The majority of thes...

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...

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...

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.

We and others have shown recently that mutations in the OPA1 gene encoding a dynamin-related mitochondrial protein cause autosomal dominant optic atrophy (ADOA) linked to chromosome 3q28-q29. Here we report screening of the OPA1 gene in a sample of 78 independent ADOA families. OPA1 mutations were identified in 25 patients (detection rate 32.1%) including 16 novel mutations. We successfully amp...