Table 2

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 featuresNo. of publ. casesConsiderations for medical follow-up*
FOXP2 (OMIM 602081)
(Speech and language disorder 1)
Chr 7: 113.7–114.3 MbNormal IQ-mild DD, severe speech delay, verbal dyspraxia>25
SETBP1 (OMIM 611060)Chr 18: 42.3-42.6 MbNormal IQ-severe ID mutism, severe speech delay<10
TM4SF20 (OMIM 615432)Chr 2: 228.2–228.2 MbNormal IQ, speech delay, white matter hyperintensities15 families
FMR1 (OMIM 309550)
(Fragile X syndrome in women)
Chr X: 147.0–147.0 MbNormal IQ-moderate ID, speech delay, POI and FXTAS>100Reproductive endocrine evaluation and treatment supportive care for gait disturbances
GALT (OMIM 606999)
(Treated classic galactosaemia)
Chr 9: 34.6–34.7 MbNormal IQ-borderline ID, vocabulary and articulation problems, CAS and dysarthria, motor disturbances, POI>100Galactosaemia treatment from birth onwards
Reproductive endocrine evaluation and treatment
NRXN1 (OMIM 600565) Chr 2: 50.1–51.3 MbNormal IQ-DD, ASD, speech and language delay, CHD, epilepsy>75Cardiac evaluation
GRIN2A (OMIM 138253)
(Landau-Kleffner syndrome)
Chr 16: 9.8–10.3 MbNormal IQ-mild ID, dyspraxia, impaired motor planning and programming and dysarthria, epilepsy>50Epilepsy 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.