Single gene disorders that are associated with speech and language pathology and can occur in the setting of normal or only mildly impaired cognitive function
| Gene (name disorder) | Chromosome position (Hg19) | Clinical features | No. of publ. cases | Considerations for medical follow-up* |
|---|---|---|---|---|
| FOXP2 (OMIM 602081) (Speech and language disorder 1) | Chr 7: 113.7–114.3 Mb | Normal IQ-mild DD, severe speech delay, verbal dyspraxia | >25 | – |
| SETBP1 (OMIM 611060) | Chr 18: 42.3-42.6 Mb | Normal IQ-severe ID mutism, severe speech delay | <10 | – |
| TM4SF20 (OMIM 615432) | Chr 2: 228.2–228.2 Mb | Normal IQ, speech delay, white matter hyperintensities | 15 families | – |
| FMR1 (OMIM 309550) (Fragile X syndrome in women) | Chr X: 147.0–147.0 Mb | Normal IQ-moderate ID, speech delay, POI and FXTAS | >100 | Reproductive endocrine evaluation and treatment supportive care for gait disturbances |
| GALT (OMIM 606999) (Treated classic galactosaemia) | Chr 9: 34.6–34.7 Mb | Normal IQ-borderline ID, vocabulary and articulation problems, CAS and dysarthria, motor disturbances, POI | >100 | Galactosaemia treatment from birth onwards Reproductive endocrine evaluation and treatment |
| NRXN1 (OMIM 600565) | Chr 2: 50.1–51.3 Mb | Normal IQ-DD, ASD, speech and language delay, CHD, epilepsy | >75 | Cardiac evaluation |
| GRIN2A (OMIM 138253) (Landau-Kleffner syndrome) | Chr 16: 9.8–10.3 Mb | Normal IQ-mild ID, dyspraxia, impaired motor planning and programming and dysarthria, epilepsy | >50 | Epilepsy monitoring and treatment |
*Medical surveillance to consider in addition to speech/language evaluation and therapy.
ASD, autism spectrum disorder; CAS, childhood apraxia of speech; CHD, congenital heart disease; DD, developmental delay; FXTAS, fragile-X associated tremor/ataxia syndrome; ID, intellectual disability; No., number; POI, primary ovarian insufficiency; publ, published.