Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4–Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies

Author:

Zou Xiao-Huan,Guo Xin-Xin,Su Hui-Zhen,Wang Chong,Dong En-Lin,Wang Ning,Chen Wan-Jin,Zhang Qi-Jie

Funder

National Natural Science Foundation of China

Joint Funds for the Innovation of Science and Technology, Fujian Province

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,General Medicine

Reference23 articles.

1. Almind GJ, Ek J, Rosenberg T, Eiberg H, Larsen M, Lucamp L, Brondum-Nielsen K, Gronskov K (2012) Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%. BMC Med Genet 13:65

2. 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-Megy 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 (2015) Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies. Am J Hum Genet 97(5):754–760

3. Charif M, Nasca A, Thompson K, Gerber S, Makowski C, Mazaheri N, Bris C, Goudenege D, Legati A, Maroofian R, Shariati G, Lamantea E, Hopton S, Ardissone A, Moroni I, Giannotta M, Siegel C, Strom TM, Prokisch H, Vignal-Clermont C, Derrien S, Zanlonghi X, Kaplan J, Hamel CP, Leruez S, Procaccio V, Bonneau D, Reynier P, White FE, Hardy SA, Barbosa IA, Simpson MA, Vara R, Perdomo Trujillo Y, Galehdari H, Deshpande C, Haack TB, Rozet JM, Taylor RW, Ghezzi D, Amati-Bonneau P, Lenaers G (2018) Neurologic phenotypes associated with mutations in RTN4IP1 (OPA10) in children and young adults. JAMA Neurol 75(1):105–113

4. Chun BY, Rizzo JF 3rd (2016) Dominant optic atrophy: updates on the pathophysiology and clinical manifestations of the optic atrophy 1 mutation. Curr Opin Ophthalmol 27(6):475–480

5. Cohn AC, Toomes C, Potter C, Towns KV, Hewitt AW, Inglehearn CF, Craig JE, Mackey DA (2007) Autosomal dominant optic atrophy: penetrance and expressivity in patients with OPA1 mutations. Am J Ophthalmol 143(4):656–662

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