Association study of stuttering candidate genes GNPTAB, GNPTG and NAGPA with dyslexia in Chinese population

详细信息    查看全文

• 作者：Huan Chen (1)
  Junquan Xu (2) (3)
  Yuxi Zhou (2) (3)
  Yong Gao (2) (3)
  Guoqing Wang (2) (3)
  Jiguang Xia (2) (3)
  Michael SY Huen (4)
  Wai Ting Siok (5) (6)
  Yuyang Jiang (7)
  Li Hai Tan (8) (9)
  Yimin Sun (10) (2) (3) (7)
  
  1. State Key Laboratory of Proteomics ; Beijing Proteome Research Center ; Beijing Institute of Radiation Medicine ; Beijing ; 102206 ; China
  2. National Engineering Research Center for Beijing Biochip Technology ; Beijing ; 102206 ; China
  3. CapitalBio Corporation ; Beijing ; 102206 ; China
  4. Department of Anatomy ; The University of Hong Kong ; Hong Kong ; China
  5. State Key Laboratory of Brain and Cognitive Sciences ; The University of Hong Kong ; Hong Kong ; China
  6. School of Humanities ; The University of Hong Kong ; Hong Kong ; China
  7. The State Key Laboratory Breeding Base-Shenzhen Key Laboratory of Chemical Biology ; The Graduate School at Shenzhen ; Tsinghua University ; Shenzhen ; China
  8. Neuroimaging Laboratory ; Department of Biomedical Engineering ; School of Medicine ; Shenzhen University ; Shenzhen ; China
  9. Guangdong Key Laboratory of Biomedical Information Detection and Ultrasound Imaging ; Shenzhen ; 518060 ; China
  10. Medical Systems Biology Research Center ; Department of Biomedical Engineering ; Tsinghua University School of Medicine ; Beijing ; China
  
• 关键词：Developmental dyslexia ; GNPTAB ; GNPTG ; NAGPA ; SNPs
• 刊名：BMC Genetics
• 出版年：2015
• 出版时间：December 2015
• 年：2015
• 卷：16
• 期：1
• 全文大小：705 KB
• 参考文献：1. Graham, SA, Fisher, SE (2013) Decoding the genetics of speech and language. Curr Opin Neurobiol 23: pp. 43-51 CrossRef
  2. Paracchini, S, Scerri, T, Monaco, AP (2007) The genetic lexicon of dyslexia. Annual review of genomics and human genetics. Annual Reviews, Palo Alto, pp. 57-79
  3. Gabrieli, JD (2009) Dyslexia: a new synergy between education and cognitive neuroscience. Science 325: pp. 280-3 CrossRef
  4. Kang, C, Drayna, D (2011) Genetics of speech and language disorders. Annu Rev Genomics Hum Genet. 12: pp. 145-64 CrossRef
  5. Goulandris, NK, Snowling, MJ, Walker, I (2000) Is dyslexia a form of specific language impairment? A comparison of dyslexic and language impaired children as adolescents. Ann Dyslexia 50: pp. 103-20 CrossRef
  6. Malek, A, Amiri, S, Hekmati, I, Pirzadeh, J, Gholizadeh, H (2013) A comparative study on diadochokinetic skill of dyslexic, stuttering, and normal children. ISRN Pediatr. 2013: pp. 165193 CrossRef
  7. Snowling, M, Bishop, DV, Stothard, SE (2000) Is preschool language impairment a risk factor for dyslexia in adolescence?. J Child Psychol Psychiatry 41: pp. 587-600 CrossRef
  8. Foundas, AL, Mock, JR, Cindass, R, Corey, DM (2013) Atypical caudate anatomy in children who stutter. Percept Mot Skills 116: pp. 528-43 CrossRef
  9. Sasisekaran, J (2013) Nonword repetition and nonword reading abilities in adults who do and do not stutter. J Fluency Disord 38: pp. 275-89 CrossRef
  10. Foorman, BR, Torgesen, T (2001) Critical elements of classroom and small-group instruction promote reading success in All children. Learn Disabil Res Pract 16: pp. 203-12 CrossRef
  11. Ji, W, Li, T, Pan, Y, Tao, H, Ju, K, Wen, Z (2013) CNTNAP2 is significantly associated with schizophrenia and major depression in the Han Chinese population. Psychiatry Res 207: pp. 225-8 CrossRef
  12. Tomblin, JB, O鈥橞rien, M, Shriberg, LD, Williams, C, Murray, J, Patil, S (2009) Language features in a mother and daughter of a chromosome 7;13 translocation involving FOXP2. J Speech Lang Hear Res 52: pp. 1157-74 CrossRef
  13. Shriberg, LD, Ballard, KJ, Tomblin, JB, Duffy, JR, Odell, KH, Williams, CA (2006) Speech, prosody, and voice characteristics of a mother and daughter with a 7;13 translocation affecting FOXP2. J Speech Lang Hear Res 49: pp. 500-25 CrossRef
  14. MacDermot, KD, Bonora, E, Sykes, N, Coupe, AM, Lai, CS, Vernes, SC (2005) Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits. Am J Hum Genet 76: pp. 1074-80 CrossRef
  15. Newbury, DF, Monaco, AP (2010) Genetic advances in the study of speech and language disorders. Neuron 68: pp. 309-20 CrossRef
  16. Turner, SJ, Hildebrand, MS, Block, S, Damiano, J, Fahey, M, Reilly, S (2013) Small intragenic deletion in FOXP2 associated with childhood apraxia of speech and dysarthria. Am J Med Genet A 161: pp. 2321-6 CrossRef
  17. Zeesman, S, Nowaczyk, MJ, Teshima, I, Roberts, W, Cardy, JO, Brian, J (2006) Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2. Am J Med Genet A 140: pp. 509-14 CrossRef
  18. Condro, MC, White, SA (2014) Distribution of language-related Cntnap2 protein in neural circuits critical for vocal learning. J Comp Neurol 522: pp. 169-85 CrossRef
  19. Rodenas-Cuadrado, P, Ho, J, Vernes, SC (2014) Shining a light on CNTNAP2: complex functions to complex disorders. Eur J Hum Genet 22: pp. 171-8 CrossRef
  20. Peter, B, Raskind, WH, Matsushita, M, Lisowski, M, Vu, T, Berninger, VW (2011) Replication of CNTNAP2 association with nonword repetition and support for FOXP2 association with timed reading and motor activities in a dyslexia family sample. J Neurodev Disord 3: pp. 39-49 CrossRef
  21. Kang, C, Riazuddin, S, Mundorff, J, Krasnewich, D, Friedman, P, Mullikin, JC (2010) Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N Engl J Med 362: pp. 677-85 CrossRef
  22. Kang, C, Drayna, D (2012) A role for inherited metabolic deficits in persistent developmental stuttering. Mol Genet Metab 107: pp. 276-80 CrossRef
  23. Bast, EJ, Amstel, HK, Franken, MC (2011) [Stuttering: effects of genes and early treatment]. Ned Tijdschr Geneeskd 155: pp. A3514
  24. Drayna, D, Kang, C (2011) Genetic approaches to understanding the causes of stuttering. J Neurodev Disord 3: pp. 374-80 CrossRef
  25. Leroy, JG, Sillence, D, Wood, T, Barnes, J, Lebel, RR, Friez, MJ (2014) A novel intermediate mucolipidosis II/IIIalphabeta caused by GNPTAB mutation in the cytosolic N-terminal domain. Eur J Hum Genet 22: pp. 594-601 CrossRef
  26. Cathey, SS, Leroy, JG, Wood, T, Eaves, K, Simensen, RJ, Kudo, M (2010) Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands. J Med Genet 47: pp. 38-48 CrossRef
  27. Kollmann, K, Pohl, S, Marschner, K, Encarnacao, M, Sakwa, I, Tiede, S (2010) Mannose phosphorylation in health and disease. Eur J Cell Biol 89: pp. 117-23 CrossRef
  28. Page, T, Zhao, KW, Tao, L, Miller, AL (1996) Purification and characterization of human lymphoblast N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase. Glycobiology 6: pp. 619-26 CrossRef
  29. Lee, WS, Kang, C, Drayna, D, Kornfeld, S (2011) Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering. J Biol Chem 286: pp. 39786-93 CrossRef
  30. Tan, LH, Xu, M, Chang, CQ, Siok, WT (2013) China鈥檚 language input system in the digital age affects children鈥檚 reading development. Proc Natl Acad Sci U S A 110: pp. 1119-23 CrossRef
  31. Bakker, PIW, Yelensky, R, Pe鈥檈r, I, Gabriel, SB, Daly, MJ, Altshuler, D (2005) Efficiency and power in genetic association studies. Nat Genet 37: pp. 1217-23 CrossRef
  32. Purcell, S, Neale, B, Todd-Brown, K, Thomas, L, Ferreira, MA, Bender, D (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: pp. 559-75 CrossRef
  33. Barrett, JC, Fry, B, Maller, J, Daly, MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21: pp. 263-5 CrossRef
  34. Barrett, JC (2009) Haploview: visualization and analysis of SNP genotype data. Cold Spring Harb Proto 2009: pp. pdb.ip71 CrossRef
  
• 刊物主题：Life Sciences, general; Animal Genetics and Genomics; Microbial Genetics and Genomics; Plant Genetics & Genomics; Genetics and Population Dynamics;
• 出版者：BioMed Central
• ISSN：1471-2156

文摘

Background Dyslexia is a polygenic speech and language disorder characterized by an unexpected difficulty in reading in children and adults despite normal intelligence and schooling. Increasing evidence reveals that different speech and language disorders could share common genetic factors. As previous study reported association of GNPTAB, GNPTG and NAGPA with stuttering, we investigated these genes with dyslexia through association analysis. Results The study was carried out in an unrelated Chinese cohort with 502 dyslexic individuals and 522 healthy controls. In all, 21 Tag SNPs covering GNPTAB, GNPTG and NAGPA were subjected to genotyping. Association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB and rs882294 in NAGPA with developmental dyslexia was identified after FDR correction for multiple comparisons. Conclusion Our results revealed that the stuttering risk genes GNPTAB and NAGPA might also associate with developmental dyslexia in the Chinese population.