Table 1.
Notable genetic studies on speech and language disorders

References	Study methods	Major findings	Genes or chromosomal loci
Verbal dyspraxia
[15]	Fluorescence in situ hybridization assay	Located chromosomal break point t(5;7)(q22;q31.2) from an individual affected by verbal dyspraxia	chromosome 7q31
[4, 14]	Genome-wide linkage analysis and sanger sequencing of KE family	Found significant linkage on chromosome 7q31, and found mis-sense mutation in FOXP2	FOXP2 on chromosome 7q31
[11, 27]	Generation and characterization of Foxp2 knock-out mouse	Found altered USV pattern in KO	–
[10]	Generation and characterization of humanized Foxp2 hum/hum mouse	Found altered USV and behavioral patterns of in humanized Foxp2 hum/hum mouse	–
Specific language impairment
[31]	Transcriptional targets of FOXP2 using chromatin immunoprecipitation	Found that FOXP2 binds and down-regulates CNTNAP2. This These genes was were associated with nonsense-word repetition	CNTNAP2
[8]	Targeted association study of SLI1 region	Found significant association of the SNPs with phonological short-term memory	CMIP, ATP2C2
Stuttering
[39]	Genome-wide linkage analysis	Found significant linkage on chromosome 12q	12q22.2
[7]	Sequencing of genes in linkage interval	Found genetic mutations in the genes involved in lysosomal enzyme-targeting pathway	GNPTAB, GNPTG, NAGPA