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 |
| 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 |
| 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. |
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| ISSN: | 1092-4388 |
| DOI: | 10.1044/2020_JSLHR-20-00102 |
