Table 2.
Main genetic disorders associated with symptoms of schizophrenia and other psychiatric disorders.
| Genetic Disorder | Estimated Rate of the Disorder in SCH (%) | Estimated Rate of SCH in the Disorder (%) |
Degree of Intellectual Disability (ID) | SCH onset (VEOS, EOS, AOS) | Other Disorders | Morphological Abnormalities |
|---|---|---|---|---|---|---|
| NPC1 18q11.2 (Niemann-Pick type C disease) [68,69,70] |
NA | 5 | Normal | AOS | -Depression -OCD -Bipolar disorder -Learning disability -Loss of intellectual ability |
NA |
| 22q11.2 deletion (DiGeorge/Velocardiofacial syndrome) [71,72] |
2 | 30 | Normal to severe ID | EOS to AOS |
-Anxiety -OCD -ADHD -ASD |
Long and narrow face, narrow palpebral slits, flat cheeks, prominent nose, small ears, small mouth, retracted chin |
| 22q13 duplication SHANK 3 (Phelan-McDermid syndrome) [73,74] |
NA | NA | Normal to severe ID | VEOS to AOS |
-ASD -ADHD |
Elongated head, high forehead, ptosis, long eyelashes, flat nose with a wide base, large ears |
| Xq13 (Lujan-Fryns syndrome) [75,76] |
NA | NA | mild to moderate ID | EOS to AOS |
ASD | Long and narrow face, maxillary hypoplasia, small mandible, and prominent forehead |
| 15q21.1 Fibrillin mutation (FBN1) (Marfan syndrome) [77,78] |
NA | >1 | Normal | AOS | -Bipolar disorder -Depression - ADHD |
Large size, arachnodactyly, pectus excavatum, pectus carinatum, micrognathia, ogival palate, tooth overlap, scoliosis, overlaxity |
| Angelman syndrome (maternal 15q11-q13 deletion, paternal uniparental disomy, mutations of UBE3A that encodes an ubiquitin E3 ligase [79,80] Prader-Willi syndrome (maternal uniparental disomy at 15q11-q13, paternal deletions) [79,81] |
7.9 | NA | Mild to moderate | NA | -Developmental delay -ASD -ID -OCD |
Obesity, growth delay and hypogonadism, facial dysmorphism, hypotonia |
| Reciprocal 7q11.23 duplication syndrome [82,83,84,85] |
6.6 | NA | Mild to moderate | NA | -ASD -ID -Anxiety |
Facial dysmorphism, short stature, heart and endocrine malformations, hypercalcemia |
| HBMS 11q23.3 (acute intermittent porphyria) [69] |
NA | 4 | Normal | AOS | -Depression -Anxiety |
NA |
| del/dup 1q (Homocystinuria) [86,87] |
NA | NA | Normal to severe ID | EOS to AOS |
-OCD -Depression -Anxiety |
Genu valgum, hollow foot, dolichostenomelia, pectus excavatum or carinatum, kyphosis, scoliosis, long face, high forehead, large, floppy, and low-set ears, and flat philtrum |
| ARS-A 22q (metachromatic leukodystrophy adult) [88] |
NA | 50 | Normal to severe ID | EOS to AOS |
-Ataxia -Loss of intellectual ability |
NA |
| 13q14.3 (Wilson’s disease) [89] |
NA | 1,4 à 11,3 | Normal to moderate ID | NA | -Depression -Anorexia |
NA |
| PDE4B 1p31 [90] |
NA | NA | Normal to mild ID | NA | -Bipolar disorder -Anxiety |
NA |
| DISC1 t(1;11)(q42;q14) [91,92] |
NA | NA | Normal to mild ID | AOS | -Bipolar disorder -Anxiety |
NA |
| 1q21.1 Copy-Number Variation (CNV) (1q21.1 del/dup) [93,94,95] |
15 | NA | Normal to mild ID | NA | -Developmental delay -Learning disability -Anxiety -ADHD -ASD |
Microcephaly (deletion) macrocephaly (duplication) |
| 15q13.3 CNV (15q13.3 del) [96,97,98] |
15 | NA | Mild to moderate ID | NA | -Developmental delay -Learning disability -ADHD -ASD |
Hypertelorism, synophrys, prominent philtrum, everted upper lip, hypotonic facies, upslanting palpebral fissures, brachycephaly |
| Xp22 CNV (Xp22 del) [99] |
NA | NA | Normal to mild ID | VEOS to AOS |
Learning disability | Low-set ears, anteverted nostrils, small size |
| 16p11.2 CNV (16p11.2 dup) [100] |
NA | NA | Normal to mild ID | VEOS | -ASD -Bipolar disorder |
Macrocephaly |
Note: SCH = Schizophrenia, NA = Not Available, VEOS = Very Early Onset Schizophrenia, EOS = Early Onset Schizophrenia, AOS = Adult-Onset Schizophrenia, OCD = Obsessive Compulsive Disorder, ASD = Autism Spectrum Disorder, ADHD = Attention Deficit Hyperactivity Disorder, ID = Intellectual Disability.