Page 136 - Read Online

Guerra et al. J Transl Genet Genom 2019;3:9. I https://doi.org/10.20517/jtgg.2018.03 Page 3 of 31

Table 1. Genes potentially involved in speech and language disorders included in this review
Gene Name Locus Disorder Methods Comments Other phenotypes Ref.
ABCC13 ATP-binding cassette 21q11.2 DLD GWAS [125]
subfamily C, member
13
ANKK1 Ankyrin Repeat 11q23.2 SSD CG [162]
And Kinase Domain
Containing 1
ANKRD12 Ankyrin Repeat 18p11.22 CAS WES Additive [88,91]
Domain 12 effects
Uncertain
significance
according to
Thevenon et
al. [91] 2012
AP4E1 Adaptor Related 15q21.2 ST WES Replicated in - Spastic paraplegia 51, [68]
Protein Complex 4 several autosomal recessive
Subunit Epsilon 1 ethnic groups
APOE Apolipoprotein E 19q13.32 AP TM Different - Alzheimer disease-2 [105-108]
phenotype - Hyperlipoproteinemia
expression type III
according to its - Lipoprotein
alleles glomerulopathy
- Sea-blue histiocyte
disease
- Macular degeneration,
age-related
- Coronary artery
disease, severe,
susceptibility to
ARL17 A/B ADP ribosylation factor 17q21.13/ DL CG [166]
like GTPase 17A/B 17q21.31
ATP13A4 ATPase 13A4 3q29 CAS WES Additive [90]
effects
ATP2C2 ATPase Secretory 16q24.1 DLD GWLATM CG [120,191]
2+
Pathway Ca ASD
Transporting 2
BDNF Brain Derived 11p14.1 SSD CG [162]
Neurotrophic Factor
C2ORF3 GC-Rich Sequence 2p12 DL GWLA Coregulator [158]
DNA-Binding Factor 2 Replicated
CDH18 Cadherin 18 5p14.3 CAS WES [88]
CHD3 Chromodomain 17p13.1 CAS WGS [89]
Helicase DNA Binding
Protein 3
CHRNA3 Cholinergic Receptor 15q25.1 SSD CG - Lung cancer [162]
Nicotinic Alpha 3 susceptibility 2
Subunit
CMIP C-Maf Inducing Protein 16q23.2-q23.3 DLD, DL, TM Replicated [120,161,191]
ASD
CNTNAP1 Contactin Associated 17q21.2 CAS WES Additive - Lethal congenital [90]
Protein 1 effects contracture syndrome 7
Not associated
with ST
CNTNAP2 Contactin Associated 7q35-q36 DLD, GWAS CG Replicated in - Cortical dysplasia-focal [60,76,90,115,117,180]
Protein 2 CAS, several SLD epilepsy syndrome
ST DT Not associated - Pitt-Hopkins like
ASD? with syndrome 1
psychiatric
conditions
COL4A2 Collagen Type IV alpha 13q34 DLD GWAS - Porencephaly 2 [128]
2 - Susceptibility
to hemorrhage,
intracerebral
COMT Cathecol-O- 22q11.21 DL CG - Susceptibility to panic [160]
MethylTransferase disorder
- Susceptibility to
Schizophrenia
CTTNBP2 Cortactin Binding 7q31.31 ASD TM [186]
Protein 2