RTN4IP1

Gene name: reticulon 4 interacting protein 1
OMIM ID: 610502
Chromosome location: 6q21

Mutations

Disease/Phenotype	Optic atrophy 10 with or without ataxia, mental retardation, and seizures
Reference transcript	NM_032730.4
DNA Change	c.308G>A
A.A. Change	p.Arg103His
Exon/Intron	exon 2
Mutation Type	substitution
Reference	Angebault C, Guichet PO, Talmat-Amar Y, Charif M, Gerber S, Fares-Taie L, Gueguen N, Halloy F, Moore D, Amati-Bonneau P, Manes G, Hebrard M, Bocquet B, Quiles M, Piro-Mégy C, Teigell M, Delettre C, Rossel M, Meunier I, Preising M, Lorenz B, Carelli V, Chinnery PF, Yu-Wai-Man P, Kaplan J, Roubertie A, Barakat A, Bonneau D, Reynier P, Rozet JM, Bomont P, Hamel CP, Lenaers G. Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. Am J Hum Genet. 2015 Nov 5;97(5):754-60. doi: 10.1016/j.ajhg.2015.09.012. Epub 2015 Oct 22.

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