Group | Gene | Region(s) | Disorder(s) |
---|---|---|---|
Brain information | TUBB — Class I beta-tubulin 6p21.33 | Posterolateral temporal area | Complex cortical dysplasia (white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria) |
PTCH1 — Patched 1 protein 9q22.32 | Occipital area, posterolateral temporal area | Nonsyndromic holoprosencephaly | |
ZIC1 — Zinc family member 1 3q24 | Inferior parietal area, dorsolateral prefrontal area | Dandy–Walker malformation | |
ZIC4 — Zinc family member 4 3q24 | Superior parietal area, inferior parietal area, dorsolateral prefrontal area | ||
Developmental disorders | ASH1L — Histone lysine methyl transferase 1q22 | Anteromedial temporal area, occipital area | ASD |
SYNGAP1 — Synaptic Ras GTPase-activating protein 1 6p21.32 | Posterolateral temporal area | ||
CPD — Carboxypeptidase D 17q11.2 | Precuneus area | Nonsyndromic hearing loss | |
MSRB3 — Methionine sulfoxide reductase B3 12q14.3 | Dorsomedial frontal area, precuneus area, posterolateral temporal area | ||
MYO6 — Myosin 6 6q14.1 | Perisylvian thickness | ||
OTOGL — Otogelin-like protein 12q21.31 | Precuneus area | ||
TRIOBP — TRIO and F-actin-binding protein 22q13.1 | Temporal pole thickness, superior parietal thickness | ||
Syndromic disorders | RIT1 — Ras-like without CAAX 1 1q22 | Anteromedial temporal area, occipital area | Noonan syndrome |
BBS9 — Bardet–Biedl syndrome 9 7p14.3 | Inferior parietal area | Bardet–Biedl syndrome | |
BCS1L — Ubiquinol-cytochrome c reductase synthesis-like 2q35 | Ventral frontal thickness, temporal pole thickness, motor-premotor-SMA thickness | Leigh syndrome | |
Neurodegenerative disorders | GBA — Glucosylceramidase beta 1q22 | Anteromedial temporal area, occipital area | Parkinson disease, dementia with Lewy bodies |
MAPT — Microtubule associated protein tau 17q21.31 | Anteromedial temporal area, orbitofrontal area, ventral frontal thickness, perisylvian thickness | Frontotemporal dementia with parkinsonism, progressive supranuclear palsy | |
Psychiatric disorders | MSRA† — Methionine sulfoxide reductase A 8p23.1 | Motor-premotor area, perisylvian thickness | Bipolar disorder, schizophrenia, ASD, alcohol use disorder |
MHC locus† — Major histocompatibility complex 6p21.3 | Posterolateral temporal area | Bipolar 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.