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

Autor/inn/en	Andres, Erin M.; Earnest, Kathleen Kelsey; Smith, Shelley D.; Rice, Mabel L.; Raza, Muhammad Hashim
Titel	Pedigree-Based Gene Mapping Supports Previous Loci and Reveals Novel Suggestive Loci in Specific Language Impairment
Quelle	In: Journal of Speech, Language, and Hearing Research, 63 (2020) 12, S.4046-4061 (16 Seiten) PDF als Volltext Verfügbarkeit
Zusatzinformation	ORCID (Andres, Erin M.) ORCID (Rice, Mabel L.) ORCID (Raza, Muhammad Hashim)
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	1092-4388
Schlagwörter	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; Scientific Research; Kansas; Clinical Evaluation of Language Fundamentals; Columbia Mental Maturity Scale; Wechsler Intelligence Scale for Children; Test of Language Development; Goldman Fristoe Test of Articulation + Suchen Sie Ihr Suchwort? Humangenetik; Speech disorder; Speech disorders; Speech disabilities; Speech disability; Speech handicap; Speech handicaps; Speech impairment; Speech impairments; Language handicaps; Sprachbehinderung; Entwicklungsverzögerung; Hearing impairment; Hörbehinderung; Identifikation; Identifizierung; Familie; Language test; Sprachtest; Kognitive Entwicklung; Reifung; Child; Kind; Kinder; Intelligence test; Intelligenztest; Sprechtest; Longitudinal study; Longitudinal method; Longitudinal methods; Längsschnittuntersuchung; Biochemie
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. (As Provided).
Anmerkungen	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
Erfasst von	ERIC (Education Resources Information Center), Washington, DC
Update	2024/1/01