Human Genetics

, Volume 128, Issue 4, pp 461–463 | Cite as

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

  • Muhammad Hashim Raza
  • Sheikh Riazuddin
  • Dennis Drayna
Short Report

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.

Notes

Acknowledgments

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

References

  1. Hoffmann K, Lindner TH (2005) easyLINKAGE-Plus—automated linkage analyses using large-scale SNP data. Bioinformatics 21(17):3565–3567CrossRefPubMedGoogle Scholar
  2. 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 362:677–685CrossRefPubMedGoogle Scholar
  3. 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):457–460CrossRefPubMedGoogle Scholar
  4. 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):647–651CrossRefPubMedGoogle Scholar
  5. 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):133–135CrossRefPubMedGoogle Scholar
  6. 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):554–563CrossRefPubMedGoogle Scholar
  7. 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):33–50CrossRefPubMedGoogle Scholar

Copyright information

© US Government 2010

Authors and Affiliations

  • Muhammad Hashim Raza
    • 1
    • 2
  • Sheikh Riazuddin
    • 2
    • 3
  • Dennis Drayna
    • 1
    • 4
  1. 1.National Institute on Deafness and Other Communication Disorders, National Institutes of HealthBethesdaUSA
  2. 2.Center of Excellence in Molecular BiologyPunjab UniversityLahorePakistan
  3. 3.Allama Iqbal Medical CollegeLahorePakistan
  4. 4.NIDCD/NIHRockvilleUSA

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