Literature DB >> 24737434

A genetic linkage study in Brazil identifies a new locus for persistent developmental stuttering on chromosome 10.

C E F Domingues1, C M C Olivera2, B V Oliveira3, F S Juste4, C R F Andrade4, C M Giacheti2, D Moretti-Ferreira3, D Drayna5.   

Abstract

Although twin, adoption, and family studies demonstrate that genetic factors are involved in the origins of stuttering, the mode of transmission of the disorder in families is not well defined and stuttering is considered a genetically complex trait. We performed a genome-wide linkage scan in a group of 43 Brazilian families, each containing multiple cases of persistent developmental stuttering. Linkage analysis under a dominant model of inheritance generated significant evidence of linkage in two Brazilian families, with a combined maximum single-point LOD score of 4.02 and a multipoint LOD score of 4.28 on chromosome 10q21. This demonstrated the presence of a novel variant gene at this locus that predisposes individuals to stuttering, which provides an opportunity to identify novel genetic mechanisms that underlie this disorder.

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Year:  2014        PMID: 24737434     DOI: 10.4238/2014.March.24.13

Source DB:  PubMed          Journal:  Genet Mol Res        ISSN: 1676-5680


  5 in total

Review 1.  Stuttering: Clinical and research update.

Authors:  Hector R Perez; James H Stoeckle
Journal:  Can Fam Physician       Date:  2016-06       Impact factor: 3.275

2.  Are variants in sex hormone metabolizing genes associated with stuttering?

Authors:  Carlos E Frigerio Domingues; Katherine Grainger; Hui Cheng; Danilo Moretti-Ferreira; Sheikh Riazuddin; Dennis Drayna
Journal:  Brain Lang       Date:  2019-02-22       Impact factor: 2.381

Review 3.  Insights into the genetic foundations of human communication.

Authors:  Sarah A Graham; Pelagia Deriziotis; Simon E Fisher
Journal:  Neuropsychol Rev       Date:  2015-01-18       Impact factor: 7.444

4.  Genetic contributions to stuttering: the current evidence.

Authors:  Carlos Frigerio-Domingues; Dennis Drayna
Journal:  Mol Genet Genomic Med       Date:  2017-02-19       Impact factor: 2.183

5.  Population-based genetic effects for developmental stuttering.

Authors:  Hannah G Polikowsky; Douglas M Shaw; Lauren E Petty; Hung-Hsin Chen; Dillon G Pruett; Jonathon P Linklater; Kathryn Z Viljoen; Janet M Beilby; Heather M Highland; Brandt Levitt; Christy L Avery; Kathleen Mullan Harris; Robin M Jones; Jennifer E Below; Shelly Jo Kraft
Journal:  HGG Adv       Date:  2021-12-02
  5 in total

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