论文信息 - First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness

First TMEM126A missense mutation in an Italian proband with optic atrophy and deafness

Recessively inherited optic neuropathy has been an elusive entity for a long time. Currently, a few causative genes have been described,1–6 associated with a spectrum of isolated or syndromic optic atrophy. Among these genes, TMEM126A (OPA7) was the first to be reported, with a single causative mutation found in all pedigrees identified to date of North African ancestry (c.163C>T; p.Arg55X), thus possibly belonging to the same founder mutational event.1,7,8

[1] A. Munnich,et al. Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause non-syndromic LHON-like optic neuropathy , 2016, Journal of Medical Genetics.

[2] T. Wienker,et al. Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation , 2016, eLife.

[3] B. Lorenz,et al. Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. , 2015, American Journal of Human Genetics.

[4] A. Munnich,et al. Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy , 2014, Journal of Medical Genetics.

[5] A. Munnich,et al. TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane. , 2013, Biochimica et biophysica acta.

[6] M. Abramowicz,et al. TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy , 2012, Molecular vision.

[7] F. Rahman,et al. Nonsense mutation in TMEM126A causing autosomal recessive optic atrophy and auditory neuropathy , 2010, Molecular vision.

[8] A. Munnich,et al. TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. , 2009, American journal of human genetics.

[9] P. Behn,et al. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome) , 1998, Nature Genetics.