TABLE 2.
Summary of clinical symptoms in patients with SETD2 gene mutation.
| No. | Sex | Age (onset age) | Overgrowth | DD | ID | Behavioral issues | Seizures | Deformities | Advanced bone age | Other symptoms | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| OFC | Height | Weight | Speech | Motor | Facial | Brain | ||||||||
| 1 | M | 20 years (5 years) | / | +3.18 SD | +3.35 SD | / | + | CIM | / | hyperhidrosis | ||||
| 2 | F | 23 years (7 years) | >97th centile | >97th centile | >97th centile | + | attention deficit, aggressive outbursts | / | + | abnormal hypersignals around lateral ventricle | + | hypotonia; frequent ear and renal infections; polycystic ovaries | ||
| 3 | M | 4.5 years | +3.3 SD | - | +2.5 SD | + | + | / | ASD | / | + | - | delayed bone age | recurrent otitis media; orchidopexia |
| 4 | F | 17 years (6 m) | >97th centile | - | - | + | + | + | anxiety disorder, ADHD, ASD | + | / | choroid plexus cysts (prenatal); CIM & hydrocephalus | / | recurrent headaches; syringomyelia |
| 5 | F | 4 years | - | - | - | + | - | / | ADHD, ASD | / | - | / | / | / |
| 6 | M | 4 years | - | - | - | + | - | / | ASD, aggressive behavior | / | - | / | / | / |
| 7 | F | 3 years | 99.6th centile | - | - | - | - | / | attention deficit, aggressive outbursts | / | + | agenesis of the corpus callosum | / | / |
| 8 | M | 11 years | +4 SD | - | - | + | - | + | / | / | + | - | / | bilateral inguinal hernia, myopia |
| 9 | M | 9 years | +3 SD | +2.5 SD | - | + | + | / | aggressive | / | + | subarachnoid cyst left temporal | + | / |
| 10 | F | 5.5 years | >99th centile | - | - | + | + | / | frustration intolerance, angry outbursts | / | - | bilateral ventriculomegaly | / | angioma |
| 11 | M | 11 years | - | - | - | + | + | / | / | + | + | Dandy walker malformation | / | patent ductus arteriosus, bilateral cryptorchidism |
| 12 | 5M | 1 m-12 years | <3rd centile (11/11) | <3rd centile (3/9); | <3rd centile (3/9); | +(9/9) | +(9/9) | / | / | +(7/12) | +(12/12) | structural brain abnormalities (12/12) | / | eye abnormalities (10/12); hearing loss (8/12); genitourinary tract anomalies (11/12); cryptorchidism (5/5); congenital heart defect (11/12); hyponatremia (8/12); skeletal abnormalities;(12/12); |
| 7F | −(6/9) | −(6/9) | ||||||||||||
| 13 | 2M | 4.5-15 years | −(3/3) | −(3/3) | −(2/3) | +(3/3) | +(2/3) | +(2/3) | anxiety (1/3) | +(3/3) | +(2/3) | −(3/3) | +(1/3) | myopia (1/3); skeletal abnormalities;(2/3); |
| 1F | ||||||||||||||
| 14 | M | 12 years | +2.5 SD | +3 SD | +3 SD | + | + | + | / | / | + | / | + | hyperchromic spots, café-au-lait spots |
| 15 | F | 3.3 years | - | - | - | + | + | / | - | - | - | - | / | recurrent otitis and pneumonia; food allergy |
| 16 | M | 26 years | +4 SD | - | +4.5 SD | + | - | / | shyness, low sociability | / | + | / | + | / |
| 17 | M | 8 years | >99th centile | >99th centile | >99th centile | +(early) -(8y) | + | + | attention deficit, ASD, aggressive outbursts | / | + | - | / | / |
| 18 | F | 23 years (<3.5 years) | +2.9 SD | - | BMI32.3 | + | + | / | ASD, self-mutilation, aggressive outbursts; | / | + | thickened corpus callosum | + | recurrent otitis, nasal polyps |
OFC, occipitofrontal circumference; DD, developmental delay; ID, intellectual disability; M, male; F, female; +, abnormality found; -, no abnormality found; /, not mentioned; ASD, autism spectrum disorder; ADHD, attention deficit hyperactivity disorder; CIM, Chiari I malformation; BMI, body mass index.