Skip to main content
Log in

Identification of an autosomal recessive stuttering locus on chromosome 3q13.2–3q13.33

  • Short Report
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

Stuttering is a common speech disorder with substantial genetic contributions. To better understand the genetic factors involved in stuttering, we performed a genome-wide linkage study in a newly-ascertained consanguineous stuttering family from Pakistan. A linkage scan in this family using parametric linkage analysis revealed significant linkage only on chromosome 3q13.2–3q13.33, with a maximum two-point LOD score of 4.23 under an autosomal recessive model of inheritance.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

References

  • Hoffmann K, Lindner TH (2005) easyLINKAGE-Plus—automated linkage analyses using large-scale SNP data. Bioinformatics 21(17):3565–3567

    Article  CAS  PubMed  Google Scholar 

  • Kang C, Riazuddin S, Mundorff J, Krasnewich D, Friedman P, Mulikan J, Drayna D (2010) Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering. N Engl J Med 362:677–685

    Article  CAS  PubMed  Google Scholar 

  • Lan J, Song M, Pan C, Zhuang G, Wang Y, Ma W, Chu Q, Lai Q, Xu F, Li Y, Liu L, Wang W (2009) Association between dopaminergic genes (SLC6A3 and DRD2) and stuttering among Han Chinese. J Hum Genet 54(8):457–460

    Article  CAS  PubMed  Google Scholar 

  • Riaz N, Steinberg S, Ahmad J, Pluzhnikov A, Riazuddin S, Cox NJ, Drayna D (2005) Genomewide significant linkage to stuttering on chromosome 12. Am J Hum Genet 76(4):647–651

    Article  CAS  PubMed  Google Scholar 

  • Shugart YY, Mundorff J, Kilshaw J, Doheny K, Doan B, Wanyee J, Green ED, Drayna D (2004) Results of a genome-wide linkage scan for stuttering. Am J Med Genet A 124A(2):133–135

    Article  PubMed  Google Scholar 

  • Suresh R, Ambrose N, Roe C, Pluzhnikov A, Wittke-Thompson JK, Ng MC, Wu X, Cook EH, Lundstrom C, Garsten M, Ezrati R, Yairi E, Cox NJ (2006) New complexities in the genetics of stuttering: significant sex-specific linkage signals. Am J Hum Genet 78(4):554–563

    Article  CAS  PubMed  Google Scholar 

  • Wittke-Thompson JK, Ambrose N, Yairi E, Roe C, Cook EH, Ober C, Cox NJ (2007) Genetic studies of stuttering in a founder population. J Fluency Disord 32(1):33–50

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

We thank Ms. Bushra Raza for assistance with stuttering diagnosis, and the research subjects for their generous cooperation with this study.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Dennis Drayna.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Raza, M.H., Riazuddin, S. & Drayna, D. Identification of an autosomal recessive stuttering locus on chromosome 3q13.2–3q13.33. Hum Genet 128, 461–463 (2010). https://doi.org/10.1007/s00439-010-0871-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00439-010-0871-y

Keywords

Navigation