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
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.
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
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