@2024 Afarand., IRAN
ISSN: 2251-8215 Sarem Journal of Reproductive Medicine 2018;2(1):13-18
ISSN: 2251-8215 Sarem Journal of Reproductive Medicine 2018;2(1):13-18
Anewmutationof FRMD7gene in X-linkedcongenitalnystagmusinan Iranian family
ARTICLE INFO
Article Type
Original ResearchAuthors
Ahmadvand M. (1)Mashhadikhan M. (2)
Shafeghati Y. (3)
Noruzinia M. (*)
(*) *“Sarem Fertility & Infertility Research Center (SAFIR)” and “Medical Genetics Department, medical Sciences Faculty”, Tarbiat Modares University, Tehran, Iran
(1) Genetics Department, Sarem Women’s Hospital, Tehran, Iran
(2) Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran
(3) Medical Genetics Department, Sarem Women’s Hospital, Tehran, Iran
Correspondence
Article History
Received: September 23, 2016Accepted: January 5, 2017
ePublished: February 15, 2018
ABSTRACT
Aims
Congenital nystagmus is one of the most common eye diseases characterized by involuntary eye movements. A large family from West Azerbaijan province (mostly living in the city of Khoy) was referred to medical genetics department of Sarem hospital which congenital nystagmus has been detected in 12 of them with X-linked dominant inheritance pattern. Two X-linked genes on the short and long arms of the X chromosome had been reported that linkage analysis had been performed on them at the medical genetics department of Sarem hospital and no positive results were found. X-linked mutations in a third gene which is called FRMD7 have been reported recently that its related characteristics were same as what has been observed in the family members of this family. Therefore, we decided to investigate the FRMD7 gene in this family.
Materials & Methods Methods of indirect (linkage) and direct sequencing (sequencing) were used to assess gene mutations of FRMD7.
Findings This study led to the identification of mutations c.37C>T. The observed variation has not previously been reported in patients with congenital nystagmus. Mutation of cytosine to thymine base and deletion of glutamine amino acid, that results in premature truncation of the protein
Conclusion The results of this study emphasize on the heterogeneity of the disease. Therefore, study of this gene as a cause of congenital nystagmus in the Iranian society should be considered.
Materials & Methods Methods of indirect (linkage) and direct sequencing (sequencing) were used to assess gene mutations of FRMD7.
Findings This study led to the identification of mutations c.37C>T. The observed variation has not previously been reported in patients with congenital nystagmus. Mutation of cytosine to thymine base and deletion of glutamine amino acid, that results in premature truncation of the protein
Conclusion The results of this study emphasize on the heterogeneity of the disease. Therefore, study of this gene as a cause of congenital nystagmus in the Iranian society should be considered.
CITATION LINKS
[1]Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, et al. Spinocerebellar ataxia type 6: Gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol. 1997;42(6):933-50.
[2]Takemori S, Cohen B. Loss of visual suppression of vestibular nystagmus after flocculus lesions. Brain Res. 1974;72(2):213-24.
[3]Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, et al. Spinocerebellar ataxia type 6: Gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol. 1997;42(6):933-50.
[4]Takemori S, Cohen B. Loss of visual suppression of vestibular nystagmus after flocculus lesions. Brain Res. 1974;72(2):213-24.
[5]Naegele JR, Held R. The postnatal development of monocular optokinetic nystagmus in infants. Vision Res. 1982;22(3):341-6.
[6]Norn M. Congenital idiopathic nystagmus. Acta ophthalmol. 1964;42(4):889-96.
[7]Cabot A, Rozet JM, Gerber S, Perrault I, Ducroq D, Smahi A, et al. A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3. Am J Hum Genet. 1999;64(4):1141-6.
[8]Kerrison JB, Vagefi MR, Barmada MM, Maumenee IH. Congenital motor nystagmus linked to Xq26-q27. Am J Hum Genet. 1999;64(2):600-7.
[9]Ragge N, Hartley C, Dearlove A, Walker J, Russell-Eggitt I, Harris C. Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: A new nystagmus locus. J Med Genet. 2003;40(1):37-41.
[10]He X, Gu F, Wang Y, Yan J, Zhang M, Huang S, et al. A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family. Mol Vis. 2008;14:56-60.
[11]Kerrison JB, Giorda R, Lenart TD, Drack AV, Maumenee IH. Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1). Ophthalmic Genet. 2001;22(4):241-8.
[12]Zhang B, Xia K, Ding M, Liang D, Liu Z, Pan Q, et al. Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family. Hum Genet. 2005;116(1-2):128-31.
[13]Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, et al. Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Am J Hum Genet. 2004;75(2):318-24.
[14]Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, et al. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet. 2006;38(11):1242-4.
[15]Li N, Wang L, Cui L, Zhang L, Dai S, Li H, et al. Five novel mutationsof the FRMD7 gene in Chinese families with X-linked infantile nystagmus. Mol Vis. 2008;14:733-8.
[16]Zhang X, Ge X, Yu Y, Zhang Y, Wu Y, Luan Y, et al. Identification of three novel mutations in the FRMD7 gene for X-linked idiopathic congenital nystagmus. Sci Rep. 2014;4:3745.
[17]Song FW, Chen BB, Sun ZH, Wu LP, Zhao SJ, Miao Q, et al. Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus. J Zhejiang Univ Sci B. 2013;14(6):479-86.
[18]Hackett A, Tarpey PS, Licata A, Cox J, Whibley A, Boyle J, et al. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet. 2010;18(5):544-52.
[19]Shiels A, Bennett TM, Prince JB, Tychsen L. X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. Mol Vis. 2007;13:2233-41.
[20]Hu J, Liang D, Xue J, Liu J, Wu L. A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus. Mol Vis. 2011;17:715-22.
[21]Watkins RJ, Patil R, Goult BT, Thomas MG, Gottlob I, Shackleton S. A novel interaction between FRMD7 and CASK: Evidence for a causal role in idiopathic infantile nystagmus. Hum Mol Genet. 2013;22(10):2105-18.
[22]Thomas MG, Thomas S, Kumar A, Proudlock F, Gottlob I. FRMD7-Related infantile nystagmus [Internet]. GeneReviews [Updated 2011 September 29; Cited 2015 December 11]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK3822/
[23]AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, et al. Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus. Invest Ophthalmol Vis Sci. 2015;56(3):1701-10
[2]Takemori S, Cohen B. Loss of visual suppression of vestibular nystagmus after flocculus lesions. Brain Res. 1974;72(2):213-24.
[3]Gomez CM, Thompson RM, Gammack JT, Perlman SL, Dobyns WB, Truwit CL, et al. Spinocerebellar ataxia type 6: Gaze-evoked and vertical nystagmus, Purkinje cell degeneration, and variable age of onset. Ann Neurol. 1997;42(6):933-50.
[4]Takemori S, Cohen B. Loss of visual suppression of vestibular nystagmus after flocculus lesions. Brain Res. 1974;72(2):213-24.
[5]Naegele JR, Held R. The postnatal development of monocular optokinetic nystagmus in infants. Vision Res. 1982;22(3):341-6.
[6]Norn M. Congenital idiopathic nystagmus. Acta ophthalmol. 1964;42(4):889-96.
[7]Cabot A, Rozet JM, Gerber S, Perrault I, Ducroq D, Smahi A, et al. A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3. Am J Hum Genet. 1999;64(4):1141-6.
[8]Kerrison JB, Vagefi MR, Barmada MM, Maumenee IH. Congenital motor nystagmus linked to Xq26-q27. Am J Hum Genet. 1999;64(2):600-7.
[9]Ragge N, Hartley C, Dearlove A, Walker J, Russell-Eggitt I, Harris C. Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: A new nystagmus locus. J Med Genet. 2003;40(1):37-41.
[10]He X, Gu F, Wang Y, Yan J, Zhang M, Huang S, et al. A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family. Mol Vis. 2008;14:56-60.
[11]Kerrison JB, Giorda R, Lenart TD, Drack AV, Maumenee IH. Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1). Ophthalmic Genet. 2001;22(4):241-8.
[12]Zhang B, Xia K, Ding M, Liang D, Liu Z, Pan Q, et al. Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family. Hum Genet. 2005;116(1-2):128-31.
[13]Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, et al. Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation. Am J Hum Genet. 2004;75(2):318-24.
[14]Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, et al. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet. 2006;38(11):1242-4.
[15]Li N, Wang L, Cui L, Zhang L, Dai S, Li H, et al. Five novel mutationsof the FRMD7 gene in Chinese families with X-linked infantile nystagmus. Mol Vis. 2008;14:733-8.
[16]Zhang X, Ge X, Yu Y, Zhang Y, Wu Y, Luan Y, et al. Identification of three novel mutations in the FRMD7 gene for X-linked idiopathic congenital nystagmus. Sci Rep. 2014;4:3745.
[17]Song FW, Chen BB, Sun ZH, Wu LP, Zhao SJ, Miao Q, et al. Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus. J Zhejiang Univ Sci B. 2013;14(6):479-86.
[18]Hackett A, Tarpey PS, Licata A, Cox J, Whibley A, Boyle J, et al. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet. 2010;18(5):544-52.
[19]Shiels A, Bennett TM, Prince JB, Tychsen L. X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. Mol Vis. 2007;13:2233-41.
[20]Hu J, Liang D, Xue J, Liu J, Wu L. A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus. Mol Vis. 2011;17:715-22.
[21]Watkins RJ, Patil R, Goult BT, Thomas MG, Gottlob I, Shackleton S. A novel interaction between FRMD7 and CASK: Evidence for a causal role in idiopathic infantile nystagmus. Hum Mol Genet. 2013;22(10):2105-18.
[22]Thomas MG, Thomas S, Kumar A, Proudlock F, Gottlob I. FRMD7-Related infantile nystagmus [Internet]. GeneReviews [Updated 2011 September 29; Cited 2015 December 11]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK3822/
[23]AlMoallem B, Bauwens M, Walraedt S, Delbeke P, De Zaeytijd J, Kestelyn P, et al. Novel FRMD7 Mutations and Genomic Rearrangement Expand the Molecular Pathogenesis of X-Linked Idiopathic Infantile Nystagmus. Invest Ophthalmol Vis Sci. 2015;56(3):1701-10