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Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment

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Title: Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment
Language: English
Authors: Andres, Erin M. (ORCID 0000-0002-3331-6728), Earnest, Kathleen Kelsey, Smith, Shelley D., Rice, Mabel L. (ORCID 0000-0002-8150-5523), Raza, Muhammad Hashim (ORCID 0000-0002-7027-5195)
Source: Journal of Speech, Language, and Hearing Research. Dec 2020 63(12):4046-4061.
Availability: American Speech-Language-Hearing Association. 2200 Research Blvd #250, Rockville, MD 20850. Tel: 301-296-5700; Fax: 301-296-8580; e-mail: slhr@asha.org; Web site: http://jslhr.pubs.asha.org
Peer Reviewed: Y
Page Count: 16
Publication Date: 2020
Sponsoring Agency: National Institute on Deafness and Other Communication Disorders (NIDCD)
Contract Number: T32DC000052
R01DC001803
R21DC017830
Document Type: Journal Articles
Reports - Research
Descriptors: Genetics, Language Impairments, Developmental Delays, Hearing Impairments, Identification, Family (Sociological Unit), Language Tests, Cognitive Development, Maturity (Individuals), Children, Intelligence Tests, Articulation (Speech), Speech Tests, Longitudinal Studies, Biochemistry, Tests, Scientific Research
Geographic Terms: Kansas
Assessment and Survey Identifiers: Clinical Evaluation of Language Fundamentals, Columbia Mental Maturity Scale, Wechsler Intelligence Scale for Children, Test of Language Development, Goldman Fristoe Test of Articulation
DOI: 10.1044/2020_JSLHR-20-00102
ISSN: 1092-4388
Abstract: Purpose: Specific language impairment (SLI) is characterized by a delay in language acquisition despite a lack of other developmental delays or hearing loss. Genetics of SLI is poorly understood. The purpose of this study is to identify SLI genetic loci through family-based linkage mapping. Method: We performed genome-wide parametric linkage analysis in six families segregating with SLI. An age-appropriate standardized omnibus language measure was used to categorically define the SLI phenotype. Results: A suggestive linkage region replicated a previous region of interest with the highest logarithm of odds (LOD) score of 2.40 at 14q11.2-q13.3 in Family 489. A paternal parent-of-origin effect associated with SLI and language phenotypes on a nonsynonymous single nucleotide polymorphism (SNP) in NOP9 (14q12) was reported previously. Linkage analysis identified a new SLI locus at 15q24.3-25.3 with the highest parametric LOD score of 3.06 in Family 315 under a recessive mode of inheritance. Suggestive evidence of linkage was also revealed at 4q31.23-q35.2 in Family 300, with the highest LOD score of 2.41. Genetic linkage was not identified in the other three families included in parametric linkage analysis. Conclusions: These results are the first to report genome-wide suggestive linkage with a total language standard score on an age-appropriate omnibus language measure across a wide age range. Our findings confirm previous reports of a language-associated locus on chromosome 14q, report new SLI loci, and validate the pedigree-based parametric linkage analysis approach to mapping genes for SLI.
Abstractor: As Provided
Entry Date: 2021
Accession Number: EJ1281461
Database: ERIC
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  Data: Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment
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  Data: <searchLink fieldCode="AR" term="%22Andres%2C+Erin+M%2E%22">Andres, Erin M.</searchLink> (ORCID <externalLink term="https://orcid.org/0000-0002-3331-6728">0000-0002-3331-6728</externalLink>)<br /><searchLink fieldCode="AR" term="%22Earnest%2C+Kathleen+Kelsey%22">Earnest, Kathleen Kelsey</searchLink><br /><searchLink fieldCode="AR" term="%22Smith%2C+Shelley+D%2E%22">Smith, Shelley D.</searchLink><br /><searchLink fieldCode="AR" term="%22Rice%2C+Mabel+L%2E%22">Rice, Mabel L.</searchLink> (ORCID <externalLink term="https://orcid.org/0000-0002-8150-5523">0000-0002-8150-5523</externalLink>)<br /><searchLink fieldCode="AR" term="%22Raza%2C+Muhammad+Hashim%22">Raza, Muhammad Hashim</searchLink> (ORCID <externalLink term="https://orcid.org/0000-0002-7027-5195">0000-0002-7027-5195</externalLink>)
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  Data: <searchLink fieldCode="SO" term="%22Journal+of+Speech%2C+Language%2C+and+Hearing+Research%22"><i>Journal of Speech, Language, and Hearing Research</i></searchLink>. Dec 2020 63(12):4046-4061.
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  Data: American Speech-Language-Hearing Association. 2200 Research Blvd #250, Rockville, MD 20850. Tel: 301-296-5700; Fax: 301-296-8580; e-mail: slhr@asha.org; Web site: http://jslhr.pubs.asha.org
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  Data: 16
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  Data: National Institute on Deafness and Other Communication Disorders (NIDCD)
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  Data: 10.1044/2020_JSLHR-20-00102
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  Data: 1092-4388
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Purpose: Specific language impairment (SLI) is characterized by a delay in language acquisition despite a lack of other developmental delays or hearing loss. Genetics of SLI is poorly understood. The purpose of this study is to identify SLI genetic loci through family-based linkage mapping. Method: We performed genome-wide parametric linkage analysis in six families segregating with SLI. An age-appropriate standardized omnibus language measure was used to categorically define the SLI phenotype. Results: A suggestive linkage region replicated a previous region of interest with the highest logarithm of odds (LOD) score of 2.40 at 14q11.2-q13.3 in Family 489. A paternal parent-of-origin effect associated with SLI and language phenotypes on a nonsynonymous single nucleotide polymorphism (SNP) in NOP9 (14q12) was reported previously. Linkage analysis identified a new SLI locus at 15q24.3-25.3 with the highest parametric LOD score of 3.06 in Family 315 under a recessive mode of inheritance. Suggestive evidence of linkage was also revealed at 4q31.23-q35.2 in Family 300, with the highest LOD score of 2.41. Genetic linkage was not identified in the other three families included in parametric linkage analysis. Conclusions: These results are the first to report genome-wide suggestive linkage with a total language standard score on an age-appropriate omnibus language measure across a wide age range. Our findings confirm previous reports of a language-associated locus on chromosome 14q, report new SLI loci, and validate the pedigree-based parametric linkage analysis approach to mapping genes for SLI.
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        Value: 10.1044/2020_JSLHR-20-00102
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