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

Domingues, Carlos Eduardo Frigério; Olivera, C. M. C.; Oliveira, Breila Vilela de; Juste, Fabíola Staróbole; Andrade, Cláudia Regina Furquim de; Giacheti, Célia Maria; Moretti-Ferreira, Danilo; Drayna, Dennis

doi:10.4238/2014.march.24.13

Cited by 17 publications

(12 citation statements)

References 28 publications

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“…Other authors described association in additional chromosomal regions [71][72][73] . Using high density genotyping, SLC6A3 and DRD2 were identified as other candidate genes in the Chinese Han population [74] .…”

Section: Stutteringmentioning

confidence: 95%

Genomics of Speech and Language Disorders

Guerra¹,

Cacabelos²

2018

Preprint

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There are multiple factors involved in speech and language. Investigating animal models, mainly through songbirds, have allowed a better understanding of the language process. Verbal dyspraxia, dysarthria, speech sound disorder, and stuttering are some examples of speech disorders, and specific language disorder, aphasia and, dyslexia of language disorders. More complex syndromes such as Autism-spectrum disorders, Down’s or Fragile X have more variable features. Genetic factors, such as hereditary or de novo mutations may be responsible for their development. In addition, most of them are involved in neurodevelopment with a huge range of molecular mechanisms and pathways that interact with each other, and there may be co-morbidity with other communication disorders or develop phenotypes unrelated to communication. Genes with heterogeneous functions in speech and language such as FOXP1, FOXP2, KIAA0319, ROBO1, APOE or CNTNAP2 are some examples. Epigenetic factors, especially miRNAs, influence their expressiveness. The genomics of these disorders allows us to understand language acquisition, carry out early detection strategies, genetic counseling and optimize future treatments, not only in communication disorders but also those neurological alterations that incorporate these mutations.

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Section: Stutteringmentioning

confidence: 95%

Genomics of Speech and Language Disorders

Guerra¹,

Cacabelos²

2018

Preprint

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“…Highly significant Domingues et al (2014) 10q Significant members of four of the 44 Pakistani families originally included in the genome-wide linkage search. This suggested that the GNPTAB p.Glu1200Lys mutation, which was subsequently shown to be a founder mutation (Fedyna et al 2011), underlies the disorder in~9% of Pakistani families with multiple cases of persistent stuttering.…”

Section: Gnptabmentioning

confidence: 99%

Genetic contributions to stuttering: the current evidence

Frigerio-Domingues

Drayna

2017

Molec Gen & Gen Med

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“…Linkage studies for persistent stuttering (see Table 1) conducted in several different populations have implicated multiple genomic loci and different modes of inheritance Raza et al 2012Raza et al , 2013Domingues et al 2014). A linkage study in a large consanguineous Pakistani family led to the identification of a linkage peak on chromosome 12 (Kang et al 2010).…”

Section: Stutteringmentioning

confidence: 99%

Insights into the Genetic Foundations of Human Communication

2015

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The human capacity to acquire sophisticated language is unmatched in the animal kingdom. Despite the discontinuity in communicative abilities between humans and other primates, language is built on ancient genetic foundations, which are being illuminated by comparative genomics. The genetic architecture of the language faculty is also being uncovered by research into neurodevelopmental disorders that disrupt the normally effortless process of language acquisition. In this article, we discuss the strategies that researchers are using to reveal genetic factors contributing to communicative abilities, and review progress in identifying the relevant genes and genetic variants. The first gene directly implicated in a speech and language disorder was FOXP2. Using this gene as a case study, we illustrate how evidence from genetics, molecular cell biology, animal models and human neuroimaging has converged to build a picture of the role of FOXP2 in neurodevelopment, providing a framework for future endeavors to bridge the gaps between genes, brains and behavior.

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

Cited by 17 publications

References 28 publications

Genomics of Speech and Language Disorders

Genomics of Speech and Language Disorders

Genetic contributions to stuttering: the current evidence

Insights into the Genetic Foundations of Human Communication

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