Genetic approaches to understanding the causes of stuttering

Journal of Neurodevelopmental Disorders

Volumn 3, Issue 4, 2011, Pages 374-380

  Drayna, Dennis ^a   Kang, Changsoo ^a  

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

Author keywords

Genetics; GNPTAB; GNPTG; Linkage; NAGPA; Stuttering

Indexed keywords

EID: 82755182786     PISSN: 18661947     EISSN: 18661955     Source Type: Journal    
DOI: 10.1007/s11689-011-9090-7     Document Type: Article

References (29)

1. Andrews G, Morrisyates A, Howie P, Martin N. Genetic-factors in stuttering confirmed. Arch Gen Psychiatry. 1991; 48(11): 1034-5.
2. Bloodstein O. Stuttering in families of adopted stutterers. J Speech Hear Disord. 2006; 26: 395-6.
3. Bloodstein O, Ratner N. A handbook on stuttering. 6th ed. Clifton park, NY: Thomson Delmar Learning; 2008.
4. Cox NJ, Kramer PL, Kidd KK. Segregation analyses of stuttering. Genet Epidemiol. 1984; 1(3): 245-53.
5. Drayna D. Founder mutations. Sci Am. 2005. p. 78-86.
6. Dworzynski K, Remington A, Rijsdijk F, Howell P, Plomin R. Genetic etiology in cases of recovered and persistent stuttering in an unselected, longitudinal sample of young twins. Am J Speech Lang Pathol. 2007; 16(2): 169-78.
7. Fedyna A, Drayna D, Kang C. Characterization of a mutation commonly associated with persistent stuttering: evidence for a founder mutation. J Hum Genet. 2011; 56: 80-2.
8. Felsenfeld S, Kirk KM, Zhu G, Statham DJ, Neale MC, Martin NG. A study of the genetic and environmental etiology of stuttering in a selected twin sample. Behav Genet. 2000; 30(5): 359-66.
9. Felsenfeld S, Plomin R. Epidemiological and offspring analyses of developmental speech disorders using data from the Colorado Adoption Project. J Speech Lang Hear Res. 1997; 40(4): 778-91.
10. Gelfman CM, Vogel P, Issa TM, Turner CA, Lee WS, Kornfeld S, et al. Mice lacking alpha/beta subunits of GlcNAc-1-phosphotransferase exhibit growth retardation, retinal degeneration, and secretory cell lesions. Invest Ophthalmol Vis Sci. 2007; 48(11): 5221-8.
11. Holy TE, Guo ZS. Ultrasonic songs of male mice. Plos Biol. 2005; 3(12): 2177-86.
12. Howie PM. Concordance for stuttering in monozygotic and dizygotic twin pairs. J Speech Hear Res. 1981; 24(3): 317-21.
13. Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mullikin JC, et al. Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. New Engl J Med. 2010; 362(8): 677-85.
14. Kidd KK, Heimbuch RC, Records MA. Vertical transmission of susceptibility to stuttering with sex-modified expression. Proc Natl Acad Sci. 1981; 78(1): 606-10.
15. Kornfeld R, Bao M, Brewer K, Noll C, Canfield W. Molecular cloning and functional expression of two splice forms of human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase. J Biol Chem. 1999; 274(46): 32778-85.
16. Kornfeld S, Sly WS. I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. The metabolic anf molecular bases of inherited disease, vol. 3. 8th ed. New York: McGraw-Hill; 2010. p. 3469-82.
17. Kudo M, Brem MS, Canfield WM. Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-Hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha/beta -subunits precursor gene. Am J Hum Genet. 2006; 78(3): 451-63.
18. MacFarlane WB, Hanson M, Walton W. Stuttering in five generations of a single family. J Fluency Disord. 1991; 16: 117-23.
19. Ooki S. Genetic and environmental influences on stuttering and tics in Japanese twin children. Twin Res Hum Genet. 2005; 8(1): 69-75.
20. Otomo T, Muramatsu T, Yorifuji T, Okuyama T, Nakabayashi H, Fukao T, et al. Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation. J Hum Genet. 2009; 54(3): 145-51.
21. Raas-Rothschild A, Cormier-Daire V, Bao M, Genin E, Salomon R, Brewer K, et al. Molecular basis of variant pseudo-Hurler polydystrophy (mucolipidosis IIIC). J Clin Invest. 2000; 105(5): 673-81.
22. Raza Mh, Riazuddin S, Drayna D. Identification of an autosomal recessive stuttering locus on chromosome 3q13. 2-3q13. 33. Hum Genet. 2010; 128(4): 461-3.
23. Reitman ML, Kornfeld S. Lysosomal enzyme targeting. N-Acetylglucosaminylphosphotransferase selectively phosphorylates native lysosomal enzymes. J Biol Chem. 1981; 256(23): 11977-80.
24. Riaz N, Steinberg S, Ahmad J, Pluzhnikov A, Riazuddin S, Cox N, et al. Genomewide significant linkage to stuttering on chromosome 12. Am J Hum Genet. 2005; 76(4): 647-51.
25. Shugart YY, Mundorff J, Kilshaw J, Doheny K, Doan B, Wanyee J, et al. Results of a genome-wide linkage scan for stuttering. Am J Med Genet. 2004; 124A(2): 133-5.
26. Suresh R, Ambrose N, Roe C, Pluzhnikov A, Wittke-Thompson JK, Ng MCY, et al. New complexities in the genetics of stuttering: significant sex-specific linkage signals. Am J Hum Genet. 2006; 78(4): 554-63.
27. Varki A, Kornfeld S. Purification and characterization of rat liver alpha-N-acetylglucosaminyl phosphodiesterase. J Biol Chem. 1981; 256(19): 9937-43.
28. Vogel P, Payne BJ, Read R, Lee WS, Gelfman CM, Kornfeld S. Comparative pathology of murine mucolipidosis types II and IIIC. Vet Pathol. 2009; 46(2): 313-24.
29. Wittke-Thompson JK, Ambrose N, Yairi E, Roe C, Cook EH, Ober C, et al. Genetic studies of stuttering in a founder population. J Fluency Disord. 2007; 32(1): 33-50.