A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692

Human Genetics

Volumn 131, Issue 5, 2012, Pages 697-702

  Xiao, Xueshan ^a   Li, Shiqiang ^a   Guo, Xiangming ^a   Zhang, Qingjiong ^a  

^a SUN YAT SEN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHINESE; CHROMOSOME 1Q; CLINICAL ARTICLE; CONGENITAL NYSTAGMUS; CONTROLLED STUDY; DISEASE COURSE; DISEASE DURATION; EXOME; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENOME ANALYSIS; GENOTYPE; HUMAN; MALE; MICROSATELLITE MARKER; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; CHROMOSOME 1; CHROMOSOME MAP; DNA SEQUENCE; DOMINANT GENE; GENETICS; PEDIGREE;

CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; GENES, DOMINANT; GENETIC LINKAGE; HUMANS; LOD SCORE; MALE; NYSTAGMUS, CONGENITAL; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 84862250745     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-1113-7     Document Type: Article

References (28)

1. Barkley NA, Dean RE, Pittman RN, Wang ML, Holbrook CC, Pederson GA (2007) Genetic diversity of cultivated and wild-type peanuts evaluated with M13-tailed SSR markers and sequencing. Genet Res 89:93-106
2. Betts-Henderson J, Bartesaghi S, Crosier M, Lindsay S, Chen HL, Salomoni P, Gottlob I, Nicotera P (2010) The nystagmus-associated FRMD7 gene regulates neuronal outgrowth and development. Hum Mol Genet 19:342-351
3. Cabot A, Rozet JM, 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 64:1141-1146
4. He X, Gu F, Wang Y, Yan J, Zhang M, Huang S, Ma X (2008) A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family. Mol Vis 14:56-60
5. Kaplan Y, Vargel I, Kansu T, Akin B, Rohmann E, Kamaci S, Uz E, Ozcelik T, Wollnik B, Akarsu NA (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 92:135-141
6. Kerrison JB, Arnould VJ, Barmada MM, Koenekoop RK, Schmeckpeper BJ, Maumenee IH (1996) A gene for autosomal dominant congenital nystagmus localizes to 6p12. Genomics 33:523-526
7. Kerrison JB, VageW MR, Barmada MM, Maumenee IH (1999) Congenital motor nystagmus linked to Xq26-q27. Am J Hum Genet 64:600-607
8. Klein C, Vieregge P, Heide W, Kemper B, Hagedorn-Greiwe M, Hagenah J, Vollmer C, Breakefield XO, 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 54:176-177
9. Lander E, Kruglyak L (1995) Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 11:241-247
10. Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
11. Li R, Li Y, Kristiansen K, Wang J (2008) SOAP: short oligonucleotide alignment program. Bioinformatics 24:713-714
12. Li R, Yu C, Li Y, Lam TW, Yiu SM, Kristiansen K, Wang J (2009) SOAP2: an improved ultrafast tool for short read alignment. Bioinformatics 25:1966-1967
13. Li Y, Vinckenbosch N, Tian G, Huerta-Sanchez E, Jiang T, Jiang H, Albrechtsen A, Andersen G, Cao H, Korneliussen T, Grarup N, Guo Y, Hellman I, Jin X, Li Q, Liu J, Liu X, Sparso T, Tang M, Wu H, Wu R, Yu C, Zheng H, Astrup A, Bolund L, Holmkvist J, Jorgensen T, Kristiansen K, Schmitz O, Schwartz TW, Zhang X, Li R, Yang H, Wang J, Hansen T, Pedersen O, Nielsen R, Wang J (2010) Resequencing of 200 human exomes identiWes an excess of low-frequency non-synonymous coding variants. Nat Genet 42:969-972
14. Liu JY, Ren X, Yang X, Guo T, Yao Q, Li L, Dai X, Zhang M, Wang L, Liu M, Wang QK (2007) Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. J Hum Genet 52:565-570
15. Patton MA, Jeffery S, Lee N, Hogg C (1993) Congenital nystagmus cosegregating with a balanced 7;15 translocation. J Med Genet 30:526-528
16. Pu J, Li Y, Liu Z, Yan Y, Tian J, Chen S, Zhang B (2011) Expression and localization of FRMD7 in human fetal brain, and a role for Factin. Mol Vis 17:591-597
17. Ragge NK, Hartley C, Dearlove AM, Walker J, Russell-Eggitt I, Harris CM (2003) Familial vestibulocerebellar disorder maps to chromosome 13q31.q33: a new nystagmus locus. J Med Genet 40:37-41
18. Schaffer AA, Gupta SK, Shriram K, Cottingham RW Jr (1994) Avoiding recomputation in linkage analysis. Hum Hered 44:225-237
19. Schorderet DF, Tiab L, Gaillard MC, Lorenz B, Klainguti G, Kerrison JB, Traboulsi EI, Munier FL (2007) Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. Hum Mutat 28:525
20. Self JE, Shawkat F, Malpas CT, Thomas NS, Harris CM, Hodgkins PR, Chen X, Trump D, Lotery AJ (2007) Allelic variation of the FRMD7 gene in congenital idiopathic nystagmus. Arch Ophthalmol 125:1255-1263
21. Self J, Haitchi HM, GriYths H, Holgate ST, Davies DE, Lotery A (2010) Frmd7 expression in developing mouse brain. Eye (Lond) 24:165-169
22. Shiels A, Bennett TM, Prince JB, Tychsen L (2007) X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. Mol Vis 13:2233-2241
23. 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 (2006) Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet 38:1242-1244
24. Terwilliger JD, Ott J (1994) Handbook of human genetic linkage. John Hopkins University Press, Baltimore
25. Thomas MG, Crosier M, Lindsay S, Kumar A, Thomas S, Araki M, Talbot CJ, McLean RJ, Surendran M, Taylor K, Leroy BP, Moore AT, Hunter DG, Hertle RW, Tarpey P, Langmann A, Lindner S, Brandner M, Gottlob I (2011) The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. Brain 134:892-902
26. Zhang Q, Zulfiqar F, Xiao X, Amer Riazuddin S, Ayyagari R, Sabar F, Caruso R, Sieving PA, Riazuddin S, Fielding Hejtmancik J (2005) Severe autosomal recessive retinitis pigmentosa maps to chromosome 1p13.3-p21.2 between D1S2896 and D1S457 but outside ABCA4. Hum Genet 118:356-365
27. 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 (2007a) Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus. Mol Vis 13:1674-1679
28. Zhang Q, Xiao X, Li S, Guo X (2007b) FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. Mol Vis 13:1375-1378