104
Views
0
CrossRef citations to date
0
Altmetric
Research Article

A Novel Type of Autosomal Dominant Episodic Nystagmus Segregating with a Variant in the FRMD5 Gene

, ORCID Icon, ORCID Icon, , , & ORCID Icon show all
Received 13 Jan 2024, Accepted 31 Mar 2024, Published online: 22 Apr 2024

References

  • Zee RJ, La DS. The Neurology of Eye Movements. 5th ed. New York, NY: Oxford Universiy Press; 2015.
  • McLean RJ, Windridge KC, Gottlob I. Living with nystagmus: a qualitative study. Br J Ophthalmol. 2012;96(7):981–986. doi:10.1136/bjophthalmol-2011-301183.
  • Grønskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007;2(1):43. doi:10.1186/1750-1172-2-43.
  • Rim JH, Lee ST, Gee HY, et al. Accuracy of next-generation sequencing for molecular diagnosis in patients with infantile nystagmus syndrome. JAMA Ophthalmol. 2017;135(12):1376–1385. doi:10.1001/jamaophthalmol.2017.4859.
  • Simonelli F, Maguire AM, Testa F, et al. Gene therapy for leber’s congenital amaurosis is safe and effective through 1.5 years after vector administration. Mol Ther. 2010;18(3):643–650. doi:10.1038/mt.2009.277.
  • Bosley TM, Brodsky MC, Glasier CM, Abu-Amero KK. Sporadic bilateral optic neuropathy in children: the role of mitochondrial abnormalities. Invest Ophthalmol Vis Sci. 2008;49(12):5250–5256. doi:10.1167/iovs.08-2193.
  • Lee H, Meyers K, Lanigan B, O’Keefe M. Complications and visual prognosis in children with aniridia. J Pediatr Ophthalmol Strabismus. 2010;47(4):205–210; quiz 211–202. doi:10.3928/01913913-20090818-07.
  • Papageorgiou E, McLean RJ, Gottlob I. Nystagmus in childhood. Pediatr Neonatol. 2014;55(5):341–351. doi:10.1016/j.pedneo.2014.02.007.
  • Tarpey P, Thomas S, Sarvananthan N, et al. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet. 2006;38(11):1242–1244. doi:10.1038/ng1893.
  • Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW. Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain. 2007;130(Pt 10):2484–2493. doi:10.1093/brain/awm126.
  • Stranneheim H, Lagerstedt-Robinson K, Magnusson M, et al. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. Genome Med. 2021;13(1):40. doi:10.1186/s13073-021-00855-5.
  • Albinsson J, Ahlgren ÅR, Jansson T, Cinthio M. A combination of parabolic and grid slope interpolation for 2D tissue displacement estimations. Med Biol Eng Comput. 2017;55(8):1327–1338. doi:10.1007/s11517-016-1593-7.
  • Albinsson J, Brorsson S, Ahlgren ÅR, Cinthio M. Improved tracking performance of lagrangian block-matching methodologies using block expansion in the time domain: in silico, phantom and in vivo evaluations. Ultrasound Med Biol. 2014;40(10):2508–2520. doi:10.1016/j.ultrasmedbio.2014.05.010.
  • Karczewski KJ, Francioli LC, Tiao G, et al. The mutational constraint spectrum quantified from variation in 141,456 humans. Nature. 2020;581(7809):434–443. doi:10.1038/s41586-020-2308-7.
  • Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248–249. doi:10.1038/nmeth0410-248.
  • Sim NL, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC. SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res. 2012;40(Web Server issue):W452–457. doi:10.1093/nar/gks539.
  • Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M. CADD: predicting the deleteriousness of variants throughout the human genome. Nucleic Acids Res. 2019;47(D1):D886–D894. doi:10.1093/nar/gky1016.
  • Pierrot-Deseilligny C, Milea D. Vertical nystagmus: clinical facts and hypotheses. Brain. 2005;128(Pt 6):1237–1246. doi:10.1093/brain/awh532.
  • Leigh RJ, Zee DS. The Neurology of Eye Movements. US: Oxford University Press; 2015
  • Lakraj AA, Miller G, Vortmeyer AO, Khokhar B, Nowak RJ, DiCapua DB. Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports. Yale J Biol Med. 2013;86:101–106
  • Du H, Grob SR, Zhao L, et al. Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene. Eye (Lond). 2012;26(8):1039–1043. doi:10.1038/eye.2012.80.
  • Mori Y, Yamashita S, Kato M, et al. Thomsen disease with ptosis and abnormal MR findings. Neuromuscul Disord. 2016;26(11):805–808. doi:10.1016/j.nmd.2016.08.016.
  • Wakeman B, Babu D, Tarleton J, Macdonald IM. Extraocular muscle hypertrophy in myotonia congenita. J AAPOS. 2008;12(3):294–296. doi:10.1016/j.jaapos.2007.12.002.
  • Marmor MF. Hereditary vertical nystagmus. Arch Ophthalmol. 1973;90(2):107–111. doi:10.1001/archopht.1973.01000050109007.
  • Abadi RV, Bjerre A. Motor and sensory characteristics of infantile nystagmus. Br J Ophthalmol. 2002;86(10):1152–1160. doi:10.1136/bjo.86.10.1152.
  • Ophoff RA, Terwindt GM, Vergouwe MN, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell. 1996;87(3):543–552. doi:10.1016/S0092-8674(00)81373-2.
  • Ashizawa T, Xia G. Ataxia. Continuum (Minneap Minn). 2016;22(4):1208–1226. doi:10.1212/CON.0000000000000362.
  • Forsythe WI. Congenital hereditary vertical nystagmus. J Neurol Neurosurg Psychiatry. 1955;18(3):196–198. doi:10.1136/jnnp.18.3.196.
  • Bixenman WW. Congenital hereditary downbeat nystagmus. Can J Ophthalmol. 1983;18:344–348
  • Funahashi K, Kuwata T, Yabumoto M, Nakai M, Komai N, Ohmi E. Congenital vertical pendular nystagmus in sisters. Ophthalmologica. 1988;196(3):137–142. doi:10.1159/000309890.
  • Dichgans J, Kornhuber HH. A rare type of hereditary nystagmus with autosomal-dominant inheritance and special phenomenon: vertical nystagmus component and disorder of the vertical and horizontal optokinetic nystagmus. Acta Genet Stat Med. 1964;14:240–250. doi:10.1159/000151850.
  • Sogg RL, Hoyt WF. Intermittent vertical nystagmus in a father and son. Arch Ophthalmol. 1962;68(4):515–517. doi:10.1001/archopht.1962.00960030519015.
  • Wang T, Pei X, Zhan J, Hu J, Yu Y, Zhang H. FERM-containing protein FRMD5 is a p120-catenin interacting protein that regulates tumor progression. FEBS Lett. 2012;586(19):3044–3050. doi:10.1016/j.febslet.2012.07.019.
  • The human protein atlas- Cell type atlas-FRMD 5. https://www.proteinatlas.org/ENSG00000171877-FRMD5/celltype. Accessed November 17, 2021
  • Winkelman BHJ, Howlett MHC, Hölzel MB, et al. Nystagmus in patients with congenital stationary night blindness (CSNB) originates from synchronously firing retinal ganglion cells. PLoS Biol. 2019;17(9):e3000174. doi:10.1371/journal.pbio.3000174.
  • Thomas S, Proudlock FA, Sarvananthan N, et al. Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7. Brain. 2008;131(Pt 5):1259–1267. doi:10.1093/brain/awn046.
  • Thomas MG, Maconachie G, Hisaund M, et al. FRMD7-related infantile nystagmus. In: Adam M, Ardinger H, and Pagon R, eds. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993–2024. https://www.ncbi.nlm.nih.gov/books/NBK3822/. Published February 12, 2009 [Updated August 16, 2018]
  • Lu S, Ma M, Mao X, et al. De Novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement. Am J Hum Genet. 2022;109(10):1932–1943. doi:10.1016/j.ajhg.2022.09.005.