Table 1

Examples of genes mapped from significant loci associated with cortical phenotypes8*

Brain informationTUBB — Class I beta-tubulin 6p21.33Posterolateral temporal areaComplex cortical dysplasia (white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria)
PTCH1 — Patched 1 protein 9q22.32Occipital area, posterolateral temporal areaNonsyndromic holoprosencephaly
ZIC1 — Zinc family member 1 3q24Inferior parietal area, dorsolateral prefrontal areaDandy–Walker malformation
ZIC4 — Zinc family member 4 3q24Superior parietal area, inferior parietal area, dorsolateral prefrontal area
Developmental disordersASH1L — Histone lysine methyl transferase 1q22Anteromedial temporal area, occipital areaASD
SYNGAP1 — Synaptic Ras GTPase-activating protein 1 6p21.32Posterolateral temporal area
CPD — Carboxypeptidase D 17q11.2Precuneus areaNonsyndromic hearing loss
MSRB3 — Methionine sulfoxide reductase B3 12q14.3Dorsomedial frontal area, precuneus area, posterolateral temporal area
MYO6 — Myosin 6 6q14.1Perisylvian thickness
OTOGL — Otogelin-like protein 12q21.31Precuneus area
TRIOBP — TRIO and F-actin-binding protein 22q13.1Temporal pole thickness, superior parietal thickness
Syndromic disordersRIT1 — Ras-like without CAAX 1 1q22Anteromedial temporal area, occipital areaNoonan syndrome
BBS9 — Bardet–Biedl syndrome 9 7p14.3Inferior parietal areaBardet–Biedl syndrome
BCS1L — Ubiquinol-cytochrome c reductase synthesis-like 2q35Ventral frontal thickness, temporal pole thickness, motor-premotor-SMA thicknessLeigh syndrome
Neurodegenerative disordersGBA — Glucosylceramidase beta 1q22Anteromedial temporal area, occipital areaParkinson disease, dementia with Lewy bodies
MAPT — Microtubule associated protein tau 17q21.31Anteromedial temporal area, orbitofrontal area, ventral frontal thickness, perisylvian thicknessFrontotemporal dementia with parkinsonism, progressive supranuclear palsy
Psychiatric disordersMSRA — Methionine sulfoxide reductase A 8p23.1Motor-premotor area, perisylvian thicknessBipolar disorder, schizophrenia, ASD, alcohol use disorder
MHC locus — Major histocompatibility complex 6p21.3Posterolateral temporal areaBipolar disorder, schizophrenia, major depressive disorder, mood disorders
  • ASD = autism spectrum disorder; GWAS = genome-wide association study.

  • * A full list of disease-related genes, defined by the NIH Genetics Home reference database (the current MedlinePlus Genetics) and the Online Mendelian Inheritance in Man (OMIM) catalogue, can be found in supplementary Table 11 (title: “Significant mapped genes associated with neurodevelopmental and neurodegenerative disorders, defined by the NIH Genetics Home reference database”) of Makowski et al.8

  • Genes identified by recent GWASs.41 Gene positions are based on the Genome Reference Consortium human build 37 (GRCh37)/hg19 assembly.