Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Hum Genet. 2013 Apr;132(4):385-96. doi: 10.1007/s00439-012-1252-5. Epub 2012 Dec 13.

Linkage analysis of a large African family segregating stuttering suggests polygenic inheritance.

Author information

  • 1National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, MD, USA.

Abstract

We describe a pedigree of 71 individuals from the Republic of Cameroon in which at least 33 individuals have a clinical diagnosis of persistent stuttering. The high concentration of stuttering individuals suggests that the pedigree either contains a single highly penetrant gene variant or that assortative mating led to multiple stuttering-associated variants being transmitted in different parts of the pedigree. No single locus displayed significant linkage to stuttering in initial genome-wide scans with microsatellite and SNP markers. By dividing the pedigree into five subpedigrees, we found evidence for linkage to previously reported loci on 3q and 15q, and to novel loci on 2p, 3p, 14q, and a different region of 15q. Using the two-locus mode of Superlink, we showed that combining the recessive locus on 2p and a single-locus additive representation of the 15q loci is sufficient to achieve a two-locus score over 6 on the entire pedigree. For this 2p + 15q analysis, we show LOD scores ranging from 4.69 to 6.57, and the scores are sensitive to which marker is chosen for 15q. Our findings provide strong evidence for linkage at several loci.

PMID:
23239121
[PubMed - indexed for MEDLINE]
PMCID:
PMC3600087
Free PMC Article

Images from this publication.See all images (1)Free text

Figure 1
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for Springer Icon for PubMed Central
    Loading ...
    Write to the Help Desk