» Articles » PMID: 15133308

Examination of Potential Overlap in Autism and Language Loci on Chromosomes 2, 7, and 13 in Two Independent Samples Ascertained for Specific Language Impairment

Overview
Journal Hum Hered
Specialty Genetics
Date 2004 May 11
PMID 15133308
Citations 53
Authors
Affiliations
Soon will be listed here.
Abstract

Specific language impairment is a neurodevelopmental disorder characterized by impairments essentially restricted to the domain of language and language learning skills. This contrasts with autism, which is a pervasive developmental disorder defined by multiple impairments in language, social reciprocity, narrow interests and/or repetitive behaviors. Genetic linkage studies and family data suggest that the two disorders may have genetic components in common. Two samples, from Canada and the US, selected for specific language impairment were genotyped at loci where such common genes are likely to reside. Significant evidence for linkage was previously observed at chromosome 13q21 in our Canadian sample (HLOD 3.56) and was confirmed in our US sample (HLOD 2.61). Using the posterior probability of linkage (PPL) to combine evidence for linkage across the two samples yielded a PPL over 92%. Two additional loci on chromosome 2 and 7 showed weak evidence for linkage. However, a marker in the cystic fibrosis transmembrane conductance regulator (7q31) showed evidence for association to SLI, confirming results from another group (O'Brien et al. 2003). Our results indicate that using samples selected for components of the autism phenotype may be a useful adjunct to autism genetics.

Citing Articles

Genome-Wide Mapping of Consanguineous Families Confirms Previously Implicated Gene Loci and Suggests New Loci in Specific Language Impairment (SLI).

Yousaf A, Hafeez H, Basra M, Rice M, Raza M, Shabbir M Children (Basel). 2024; 11(9).

PMID: 39334596 PMC: 11429814. DOI: 10.3390/children11091063.


The Rosetta Phenotype Harmonization Method Facilitates Finding a Relationship Quantitative Trait Locus for a Complex Cognitive Trait.

Petrill S, Klamer B, Buyske S, Willcutt E, Gruen J, Francis D Genes (Basel). 2023; 14(9).

PMID: 37761888 PMC: 10531321. DOI: 10.3390/genes14091748.


Structural Variations Contribute to the Genetic Etiology of Autism Spectrum Disorder and Language Impairments.

Alibutud R, Hansali S, Cao X, Zhou A, Mahaganapathy V, Azaro M Int J Mol Sci. 2023; 24(17).

PMID: 37686052 PMC: 10487745. DOI: 10.3390/ijms241713248.


EARLY CONSIDERATIONS OF GENETICS IN APHASIA REHABILITATION: A NARRATIVE REVIEW.

Harnish S, Diedrichs V, Bartlett C Aphasiology. 2023; 37(6):835-853.

PMID: 37346093 PMC: 10281715. DOI: 10.1080/02687038.2022.2043234.


Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in , a Component of the Retention and Splicing (RES) Complex.

Andres E, Earnest K, Zhong C, Rice M, Raza M Brain Sci. 2022; 12(1.

PMID: 35053791 PMC: 8773923. DOI: 10.3390/brainsci12010047.


References
1.
Kjelgaard M, Tager-Flusberg H . An Investigation of Language Impairment in Autism: Implications for Genetic Subgroups. Lang Cogn Process. 2006; 16(2-3):287-308. PMC: 1460015. DOI: 10.1080/01690960042000058. View

2.
Smith C . TESTING FOR HETEROGENEITY OF RECOMBINATION FRACTION VALUES IN HUMAN GENETICS. Ann Hum Genet. 1963; 27:175-82. DOI: 10.1111/j.1469-1809.1963.tb00210.x. View

3.
Wassink T, Piven J, Vieland V, Huang J, Swiderski R, Pietila J . Evidence supporting WNT2 as an autism susceptibility gene. Am J Med Genet. 2001; 105(5):406-13. DOI: 10.1002/ajmg.1401. View

4.
Tomblin J, Records N, Buckwalter P, Zhang X, Smith E, OBrien M . Prevalence of specific language impairment in kindergarten children. J Speech Lang Hear Res. 1998; 40(6):1245-60. PMC: 5075245. DOI: 10.1044/jslhr.4006.1245. View

5.
Vieland V, Logue M . HLODs, trait models, and ascertainment: implications of admixture for parameter estimation and linkage detection. Hum Hered. 2002; 53(1):23-35. DOI: 10.1159/000048601. View