Full Text:   <3085>

CLC number: R394.3

On-line Access: 2024-08-27

Received: 2023-10-17

Revision Accepted: 2024-05-08

Crosschecked: 2013-05-17

Cited: 1

Clicked: 6143

Citations:  Bibtex RefMan EndNote GB/T7714

-   Go to

Article info.
1. Reference List
Open peer comments

Journal of Zhejiang University SCIENCE B 2013 Vol.14 No.6 P.479-486

http://doi.org/10.1631/jzus.B1200259


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


Author(s):  Feng-wei Song, Bin-bin Chen, Zhao-hui Sun, Li-ping Wu, Su-juan Zhao, Qi Miao, Xia-jing Tang

Affiliation(s):  Eye Center, the Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310009, China; more

Corresponding email(s):   sunzhaohui2008@gmail.com

Key Words:  Mutation, Idiopathic congenital nystagmus, FERM domain-containing protein 7 (FRMD7)


Feng-wei Song, Bin-bin Chen, Zhao-hui Sun, Li-ping Wu, Su-juan Zhao, Qi Miao, Xia-jing Tang. 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]. Journal of Zhejiang University Science B, 2013, 14(6): 479-486.

@article{title="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",
author="Feng-wei Song, Bin-bin Chen, Zhao-hui Sun, Li-ping Wu, Su-juan Zhao, Qi Miao, Xia-jing Tang",
journal="Journal of Zhejiang University Science B",
volume="14",
number="6",
pages="479-486",
year="2013",
publisher="Zhejiang University Press & Springer",
doi="10.1631/jzus.B1200259"
}

%0 Journal Article
%T 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
%A Feng-wei Song
%A Bin-bin Chen
%A Zhao-hui Sun
%A Li-ping Wu
%A Su-juan Zhao
%A Qi Miao
%A Xia-jing Tang
%J Journal of Zhejiang University SCIENCE B
%V 14
%N 6
%P 479-486
%@ 1673-1581
%D 2013
%I Zhejiang University Press & Springer
%DOI 10.1631/jzus.B1200259

TY - JOUR
T1 - 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
A1 - Feng-wei Song
A1 - Bin-bin Chen
A1 - Zhao-hui Sun
A1 - Li-ping Wu
A1 - Su-juan Zhao
A1 - Qi Miao
A1 - Xia-jing Tang
J0 - Journal of Zhejiang University Science B
VL - 14
IS - 6
SP - 479
EP - 486
%@ 1673-1581
Y1 - 2013
PB - Zhejiang University Press & Springer
ER -
DOI - 10.1631/jzus.B1200259


Abstract: 
Objective: To screen mutations in FERM domain-containing protein 7 (FRMD7) gene in two Chinese families with X-linked idiopathic congenital nystagmus (XLICN). Methods: Common ophthalmic data and peripheral blood of two Chinese XLICN families (families A and B) were collected after informed consent. Genomic DNA was prepared from the peripheral blood of members of the two families and from 100 normal controls. mutations in the FRMD7 gene were determined by directly sequencing polymerase chain reaction (PCR) products. Results: We identified a novel mutation c.980_983delATTA compound with c.986C>A mutation in the 11th exon of FRMD7 in family B, and a previously reported splicing mutation c.782G>C (p.R261G) in family A. The mutations were detected in patients and female carriers, while they were absent in other relatives or in the 100 normal controls. Conclusions: Our results expand the spectrum of FRMD7 mutations in association with XLICN, and further confirm that the mutations of FRMD7 are the underlying molecular mechanism for XLICN.

An erratum to this article can be found at doi:10.1631/jzus.B12e0259

Darkslateblue:Affiliate; Royal Blue:Author; Turquoise:Article

Reference

[1]Baines, A.J., 2006. A ferm-adjacent (FA) region defines a subset of the 4.1 superfamily and is a potential regulator of FERM domain function. BMC Genomics, 7:85.

[2]Bassi, M.T., Schiaffino, M.V., Renieri, A., de Nigris, F., Galli, L., Bruttini, M., Gebbia, M., Bergen, A.A., Lewis, R.A., Ballabio, A., 1995. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat. Genet., 10(1):13-19.

[3]Betts-Henderson, J., Bartesaghi, S., Crosier, M., Lindsay, S., Chen, H.L., Salomoni, P., Gottlob, I., Nicotera, P., 2010. The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development. Hum. Mol. Genet., 19(2):342-351.

[4]Cabot, A., Rozet, J.M., Gerber, S., Perrault, I., Ducroq, D., Smahi, A., Souied, E., Munnich, A., Kaplan, J., 1999. A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4–p11.3. Am. J. Hum. Genet., 64(4):1141-1146.

[5]Chishti, A.H., Kim, A.C., Marfatia, S.M., Lutchman, M., Hanspal, M., Jindal, H., Liu, S.C., Low, P.S., Rouleau, G.A., Mohandas, N., et al., 1998. The FERM domain: a unique module involved in the linkage of cytoplasmic proteins to the membrane. Trends Biochem. Sci., 23(8):281-282.

[6]Du, W., Bu, J., Dong, J., Jia, Y., Li, J., Liang, C., Si, S., Wang, L., 2011. A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family. Mol. Vis., 17:2765-2768.

[7]Hamada, K., Shimizu, T., Matsui, T., Tsukita, S., Hakoshima, T., 2000. Structural basis of the membrane-targeting and unmasking mechanisms of the radixin FERM domain. EMBO J., 19(17):4449-4462.

[8]Han, B.G., Nunomura, W., Takakuwa, Y., Mohandas, N., Jap, B.K., 2000. Protein 4.1R core domain structure and insights into regulation of cytoskeletal organization. Nat. Struct. Biol., 7(10):871-875.

[9]He, X., Gu, F., Wang, Z., Wang, C., Tong, Y., Wang, Y., Yang, J., Liu, W., Zhang, M., Ma, X., 2008a. A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus. Genet. Test, 12(4):607-613.

[10]He, X., Gu, F., Wang, Y., Yan, J., Zhang, M., Huang, S., Ma, X., 2008b. A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family. Mol. Vis., 14:56-60.

[11]Hu, Y., Shen, J., Zhang, S., Yang, T., Huang, S., Yuan, H., 2012. A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus. Mol. Vis., 18:87-91.

[12]Kaplan, Y., Vargel, I., Kansu, T., Akin, B., Rohmann, E., Kamaci, S., Uz, E., Ozcelik, T., Wollnik, B., Akarsu, N.A., 2008. Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene. Br. J. Ophthalmol., 92(1):135-141.

[13]Kerrison, J.B., Koenekoop, R.K., Arnould, V.J., Zee, D., Maumenee, I.H., 1998. Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12. Am. J. Ophthalmol., 125(1):64-70.

[14]Kerrison, J.B., Vagefi, M.R., Barmada, M.M., Maumenee, I.H., 1999. Congenital motor nystagmus linked to Xq26–q27. Am. J. Ophthalmol., 64(2):600-607.

[15]Khan, A.O., Shinwari, J., Al-Sharif, L., Khalil, D.S., Al Tassan, N., 2011. Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050+5 G>A. Arch. Ophthalmol., 129(7):936-940.

[16]Klein, C., Vieregge, P., Heide, W., Kemper, B., Hagedorn-Greiwe, M., Hagenah, J., Vollmer, C., Breakefield, X.O., Kompf, D., Ozelius, L., 1998. Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus. Genomics, 54(1):176-177.

[17]Li, N., Wang, L., Cui, L., Zhang, L., Dai, S., Li, H., Chen, X., Zhu, L., Hejtmancik, J.F., Zhao, K., 2008a. Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus. Mol. Vis., 14:733-738.

[18]Li, N.D., Cui, L.H., Wang, L.M., Ma, H.Z., Zhang, L.L., Yue, Y.Y., Zhao, K.X., 2008b. The G990T mutation of the FRMD7 gene in a Chinese family with congenital idiopathic nystagmus. Chin. J. Med. Genet., 25(1):11-14 (in Chinese).

[19]Li, N., Wang, X., Wang, Y., Wang, L., Ying, M., Han, R., Liu, Y., Zhao, K., 2011. Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus. Mol. Vis., 17:461-468.

[20]Mcclatchey, A.I., Fehon, R.G., 2009. Merlin and the ERM proteins—regulators of receptor distribution and signaling at the cell cortex. Trends Cell Biol., 19(5):198-206.

[21]Patton, M.A., Jeffery, S., Lee, N., Hogg, C., 1993. Congenital nystagmus cosegregating with a balanced 7;15 translocation. J. Med. Genet., 30(6):526-528.

[22]Pearson, M.A., Reczek, D., Bretscher, A., Karplus, P.A., 2000. Structure of the ERM protein moesin reveals the FERM domain fold masked by an extended actin binding tail domain. Cell, 101(3):259-270.

[23]Radhakrishna, U., Ratnamala, U., Deutsch, S., Bartoloni, L., Kuracha, M.R., Singh, R., Banwait, J., Bastola, D.K., Johar, K., Nath, S.K., et al., 2012. Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus. Eur. J. Hum. Genet., 20(10):1032-1036.

[24]Sarvananthan, N., Surendran, M., Roberts, E.O., Jain, S., Thomas, S., Shah, N., Proudlock, F.A., Thompson, J.R., Mclean, R.J., Degg, C., et al., 2009. The prevalence of nystagmus: the leicestershire nystagmus survey. Invest. Ophthalmol. Vis. Sci., 50(11):5201-5206.

[25]Schorderet, D.F., Tiab, L., Gaillard, M.C., Lorenz, B., Klainguti, G., Kerrison, J.B., Traboulsi, E.I., Munier, F.L., 2007. Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. Hum. Mutat., 28(5):525.

[26]Self, J.E., Shawkat, F., Malpas, C.T., Thomas, N.S., Harris, C.M., Hodgkins, P.R., Chen, X., Trump, D., Lotery, A.J., 2007. Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus. Arch. Ophthalmol., 125(9):1255-1263.

[27]Shiels, A., Bennett, T.M., Prince, J.B., Tychsen, L., 2007. X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. Mol. Vis., 13:2233-2241.

[28]Shimizu, T., Seto, A., Maita, N., Hamada, K., Tsukita, S., Hakoshima, T., 2002. Structural basis for neurofibromatosis type 2. Crystal structure of the merlin ferm domain. J. Biol. Chem., 277(12):10332-10336.

[29]Smith, W.J., Nassar, N., Bretscher, A., Cerione, R.A., Karplus, P.A., 2003. Structure of the active N-terminal domain of ezrin. Conformational and mobility changes identify keystone interactions. J. Biol. Chem., 278(7):4949-4956.

[30]Tarpey, P., Thomas, S., Sarvananthan, N., Mallya, U., Lisgo, S., Talbot, C.J., Roberts, E.O., Awan, M., Surendran, M., Mclean, R.J., et al., 2006. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat. Genet., 38(11):1242-1244.

[31]Thomas, M.G., Crosier, M., Lindsay, S., Kumar, A., Thomas, S., Araki, M., Talbot, C.J., Mclean, R.J., Surendran, M., Taylor, K., et al., 2011. The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. Brain, 134(Pt3):892-902.

[32]Tsukita, S., Yonemura, S., 1999. Cortical actin organization: lessons from ERM (ezrin/radixin/moesin) proteins. J. Biol. Chem., 274(49):34507-34510.

[33]Zhang, B., Liu, Z., Zhao, G., Xie, X., Yin, X., Hu, Z., Xu, S., Li, Q., Song, F., Tian, J., et al., 2007. Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus. Mol. Vis., 13:1674-1679.

[34]Zhang, Q., Xiao, X., Li, S., Guo, X., 2007. FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. Mol. Vis., 13:1375-1378.

Open peer comments: Debate/Discuss/Question/Opinion

<1>

Please provide your name, email address and a comment





Journal of Zhejiang University-SCIENCE, 38 Zheda Road, Hangzhou 310027, China
Tel: +86-571-87952783; E-mail: cjzhang@zju.edu.cn
Copyright © 2000 - 2024 Journal of Zhejiang University-SCIENCE