» Articles » PMID: 26379700

Evidence for the Multiple Hits Genetic Theory for Inherited Language Impairment: a Case Study

Overview
Journal Front Genet
Date 2015 Sep 18
PMID 26379700
Citations 6
Authors
Affiliations
Soon will be listed here.
Abstract

Communication disorders have complex genetic origins, with constellations of relevant gene markers that vary across individuals. Some genetic variants are present in healthy individuals as well as those affected by developmental disorders. Growing evidence suggests that some variants may increase susceptibility to these disorders in the presence of other pathogenic gene mutations. In the current study, we describe eight children with specific language impairment and four of these children had a copy number variant in one of these potential susceptibility regions on chromosome 15. Three of these four children also had variants in other genes previously associated with language impairment. Our data support the theory that 15q11.2 is a susceptibility region for developmental disorders, specifically language impairment.

Citing Articles

Body mass index is an overlooked confounding factor in existing clustering studies of 3D facial scans of children with autism spectrum disorder.

Schwarz M, Geryk J, Havlovicova M, Mihulova M, Turnovec M, Ryba L Sci Rep. 2024; 14(1):9873.

PMID: 38684768 PMC: 11059264. DOI: 10.1038/s41598-024-60376-0.


Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder.

Yahia A, Li D, Lejerkrans S, Rajagopalan S, Kalnak N, Tammimies K Hum Genet. 2024; 143(2):169-183.

PMID: 38300321 PMC: 10881898. DOI: 10.1007/s00439-023-02636-z.


Genetic outcomes in children with developmental language disorder: a systematic review.

van Wijngaarden V, de Wilde H, Mink van der Molen D, Petter J, Stegeman I, Gerrits E Front Pediatr. 2024; 12:1315229.

PMID: 38298611 PMC: 10828955. DOI: 10.3389/fped.2024.1315229.


NRXN1 Deletion in Two Twins' Genotype and Phenotype: A Clinical Case and Literature Review.

Sciacca M, Marino L, Vitaliti G, Falsaperla R, Marino S Children (Basel). 2022; 9(5).

PMID: 35626875 PMC: 9139251. DOI: 10.3390/children9050698.


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.
Thevenon J, Callier P, Andrieux J, Delobel B, David A, Sukno S . 12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech. Eur J Hum Genet. 2012; 21(1):82-8. PMC: 3522191. DOI: 10.1038/ejhg.2012.116. View

2.
Perez Jurado L, Wang Y, Peoples R, Coloma A, Cruces J, Francke U . A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Hum Mol Genet. 1998; 7(3):325-34. DOI: 10.1093/hmg/7.3.325. View

3.
Catts H, Adlof S, Hogan T, Weismer S . Are specific language impairment and dyslexia distinct disorders?. J Speech Lang Hear Res. 2006; 48(6):1378-96. PMC: 2853030. DOI: 10.1044/1092-4388(2005/096). View

4.
Hashemi B, Bassett A, Chitayat D, Chong K, Feldman M, Flanagan J . Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population. Am J Med Genet A. 2015; 167A(9):2098-102. DOI: 10.1002/ajmg.a.37134. View

5.
Mefford H, Muhle H, Ostertag P, von Spiczak S, Buysse K, Baker C . Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet. 2010; 6(5):e1000962. PMC: 2873910. DOI: 10.1371/journal.pgen.1000962. View