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ERIC Number: EJ1281461
Record Type: Journal
Publication Date: 2020-Dec
Pages: 16
Abstractor: As Provided
ISBN: N/A
ISSN: ISSN-1092-4388
EISSN: N/A
Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment
Andres, Erin M.; Earnest, Kathleen Kelsey; Smith, Shelley D.; Rice, Mabel L.; Raza, Muhammad Hashim
Journal of Speech, Language, and Hearing Research, v63 n12 p4046-4061 Dec 2020
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.
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
Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Audience: N/A
Language: English
Sponsor: National Institute on Deafness and Other Communication Disorders (NIDCD)
Authoring Institution: N/A
Identifiers - Location: Kansas
Identifiers - Assessments and Surveys: Clinical Evaluation of Language Fundamentals; Columbia Mental Maturity Scale; Wechsler Intelligence Scale for Children; Test of Language Development; Goldman Fristoe Test of Articulation
Grant or Contract Numbers: T32DC000052; R01DC001803; R21DC017830