LETTER TO THE EDITOR Heterozygous OPA1 mutations in Behr syndrome

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...

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...

New mutations causing the 2019 novel Coronavirus (2019-nCoV) epidemic: letter to the editor

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