Five novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus

Molecular Vision

Volumn 14, Issue , 2008, Pages 733-738

  Li, Ningdong ^a   Wang, Liming ^a   Cui, Lihong ^b   Zhang, Li ^c   Dai, Suzhen ^c   Li, Hongyan ^d   Chen, Xia ^a   Zhu, Lina ^a   Hejtmancik, James F ^e   Zhao, Kanxing ^a,b  

^a TIANJIN EYE HOSPITAL   (China)

^b TIANJIN MEDICAL UNIVERSITY   (China)

^c Henan Eye Institute   (China)

^d Central Hospital of Enshi Autonomous Prefecture   (China)

^e NATIONAL EYE INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CHROMOSOME PROTEIN; CYTOSINE; GUANINE; PROTEIN FRMD7; SERINE; THYMINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CHINESE; CLINICAL ARTICLE; EXON; EYE DISEASE; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC LINKAGE; HUMAN; INTRON; LINKAGE ANALYSIS; MALE; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN FUNCTION; SCHOOL CHILD; SEQUENCE ANALYSIS; X LINKED INFANTILE NYSTAGMUS;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHILD; CHINA; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC DISEASES, X-LINKED; HETEROZYGOTE; HUMANS; LOD SCORE; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NYSTAGMUS, CONGENITAL; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 42949109719     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Abadi RV, Bjerre A. Motor and sensory characteristics of infantile nystagmus. Br J Ophthalmol 2002; 86:1152-60.
2. Kerrison JB, Arnould VJ, Barmada MM, Koenekoop RK, Schmeckpeper BJ, Maumenee IH. A gene for autosomal dominant congenital nystagmus localizes to 6p12. Genomics 1996; 33:523-6.
3. Klein C, Vieregge P, Heide W. ET, al: Exclusion of chroosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus. Genomics 1998; 54:176-7.
4. Ragge NK, Hartley C, Dearlove AM, Walker J, Russell-Eggitt I, Harris CM. Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus. J Med Genet 2003; 40:37-41.
5. Cabot A, Rozet JM, Gerber S. etal: A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p113. Am J Hum Genet 1999; 64:1141-6.
6. Kerrison JB, Vagefi MR, Barmada MM, Maumenne IH. Congenital motor nystagmus linked to Xq26-27. Am J Hum Genet 1999; 64:600-7.
7. Oetting WS, Armstrong CM, Holleschau AM, DeWan AT, Summers GC. Evidence for genetic heterogeneity in families with congenital motor nystagmus (CN). Ophthalmic Genet 2000; 21:227-33.
8. Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Degg C, Droutsas K, Asproudis I, Zubcov AA, Pieh C, Veal CD, Machado RD, Backhouse OC, Baumber L, Constantinescu CS, Brodsky MC, Hunter DG, Hertle RW, Read RJ, Edkins S, O'Meara S, Parker A, Stevens C, Teague J, Wooster R, Futreal PA, Trembath RC, Stratton MR, Raymond FL, Gottlob I. Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet 2006; 8:1242-4.
9. Schorderet DF, Tiab L, Gaillard MC, Lorenz B, Klainquti G, Kerrison JB, Traboulsi EI, Munier FL. Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. Hum Mutat 2007; 28:525.
10. Zhang Q, Xiao X, Li S, Guo X. FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. Mol Vis 2007; 13:1375-8.
11. Zhang B, Liu Z, Zhao G, Xie X, Yin X, Hu Z, Xu S, Li Q, Song F, Tian J, Luo W, Ding M, Yin J, Xia K, Xia J. Novel mutations of the FRMD7 gene in X-linked congenital motor nystaggmus. Mol Vis 2007; 13:1674-9.
12. Kaplan Y, Vargel I, Kansu T, Akin B, Rohmann E, Kamaci S, Uz E, Ozcelik T, Wollnik B, Akarsu NA. Skewed X-inactivation in an X-linked Nystagmus Family Resulted from a Novel, p.R229G, Missense Mutation in the FRMD7 Gene. Br J Ophthalmol 2008; 92:135-41.