Article Figures & Tables
Figures
- Figure 1
(A) Coronal MRI slice and inset schematic outlining the relationship between surface area, cortical thickness, and volume. (B) Genetically informed brain atlases of surface area and cortical thickness. Note: these brain regions are displayed on a smooth version of the brain that does not delineate sulcal/gyral patterns. MRI = magnetic resonance imaging; SMA = supplementary motor area.
Tables
- Table 1
Examples of genes mapped from significant loci associated with cortical phenotypes8*
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.
In this issue
Article tools
Related Articles
Cited By...
- No citing articles found.