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Table 4 Summary of clinical features of patients with variation/aberration within the SETD1B gene

From: A genome-wide DNA methylation signature for SETD1B-related syndrome

  Specific SETD1B-related DNAm signature (this study) Other previously reported patients (not included in this study) Non-SETD1B DNAm signature
Clinical features mut_1 Male 13 years Disrupted SETD1B mut_2 Male 16 years Disrupted SETD1B 3_mut Male 34 years Disrupted SETD1B 4_mut Female 12 years Disrupted SETD1B 5_mut Male 7 years Disrupted SETD1B 2_del12q Female 12 years Disrupted SETD1B and KDM2B 3_del12q Male 3 years Disrupted SETD1B and KDM2B 4_del12q Female 16 years Disrupted SETD1B Baple et al. [1] Female 11 years Disrupted SETD1B and KDM2B Palumbo et al. [3] Female 11 years Disrupted SETD1B and KDM2B 6_mut Male 8 years VUS SETD1B 7_mut Male 10 years VUS SETD1B
Growth parameters at birth
 Height 48 cm NA NA 47 cm (5th centile) 52 cm (+ 0.45 SD) NA NA NA NA NA NA
 Weight 2.9 kg 2.52 kg (2.5 SD) 3.6 kg (+ 1.5 SD) 3.55 kg (+ 1.4 SD) 34.5 cm (+ 1.1 SD) 2.8 kg (9th centile) 3.78 kg (+ 1.45 SD) NA NA 4094 g (90–95th centile) 2650 g (5–10th centile) 3260.2 (25–50th centile) NA
 Head circumference 33 cm NA NA NA 33 cm (10th centile) 35 cm (− 0.1 SD) NA NA NA NA NA NA
Growth parameters at last evaluation
 Height 167.5 cm (at 30 years) 193 cm (+ 1.45SD) NA NA 1.35 m (+ 1.8 SD) 170 cm (+ 1.2SD) (at 13) NA (98th centile) 157.5 cm (98th centile) (10–25th centile) 13 cm (67th centile) NA
 Weight 111.8 kg (at 30 years) 67 kg (− 0.15SD) NA NA 46 kg (>> + 3 SD) 84.9 kg; + 2.5 SD (according to height) NA (98th centile) 91.5 kg (98–99,6th centile) (10–25th centile) 46.8 kg (95th centile)  
 Head circumference 60 cm (at 30 years) NA NA NA 51 cm (− 1.2 SD) 48 cm; − 0.97 SD at 3 years NA (98th centile) 54.8 cm (75th centile) (10–25th centile) 54 cm NA
 Head NA NA Normal NA Prominent forehead Narrow face, prominent forehead, plagiocephaly NA NA NA Very fair hair NA
 Eye Up slant palpebral fissures, proptosis Thick eye brows Normal Thick eyebrows, hypertelorism, sunken eyes, short palpebral fissures Telecanthu, epicanthus Hypertelorism Up slanting palpebral fissures, synophrys NA NA Very Fair (blue) Upslant palpebral fissures, myopia
 Ear Normal Normal Normal Thick helix Tags preauriculair Folded ear ridges Small, low set and posteriorly rotated Large, narrow with thick helix and rotated Large and narrow with a thick helix NA NA
 Nose Asymmetric due to cleft lip Normal Normal Normal Short upturned nose, large nose bridge NA Height nasal bridge, square tip Broad nasal based Broad base; high root NA NA
 Cheeks Full Normal Full Normal Full Full NA NA Full Full NA NA
 Lip Cleft lip Full lower lip Normal Full Full lower lip; short philtrum NA NA Full and everted lower lip Full and everted lower lip NA Malformation of upper lip, prominent upper lip
 Mouth Cleft jaw bilateral NA Normal NA Macroglossia; prognathic NA Minor micrognathia Macroglossia Macroglossia NA NA
 Palate Cleft palate NA Normal NA NA NA Narrow palate High arch High arch NA NA
 Teeth Misaligned due to cleft jaw NA Normal Oligodontia Irregular, oligodontia NA Prominent front incisors Overcrowded Overcrowded NA Malaligned teeth with increased spacing
Developmental delay
 Intellectual disability Mild – moderate Mild Profound Mild Profound +   Moderate Moderate moderate to severe mild-to-moderate +
 Motor development Walk without support Walk without support Walk without support Walk without support Normally but her movements are not fluent + Global developmental delay Walk with a broad-based gait global developmental delay global developmental delay +
 Language delay + + + + + + + +; few words at 2 years old first words at 3 years NA
 Anxiety +    + + + NA
Autism/autistic behavior + + + + + +; at 4 years + +
 Type Frontal-temporal In early childhood absences, alter tonic-clonic seizures Myoclonic seizures (3y11m) Myoclonic seizures (2y9m), NA NA Myoclonic seizures NA Tonic-clonic seizures No seizures Tonic-clonic seizures remotely in childhood and more recently complex partial seizures
Fingers abnormality NA Fetal pads Tapering fingers- mild Tapering fingers-mild Clinodactyly Tapering fingers Tapering fingers with prominent fingertip pads Tapering finger – mild left 4th finger proximally implanted Tapering fingers – mild Long fingers, widened tips, 5th finger clinodactyly
Toes Foot pronation Normal NA NA NA NA NA Bilateral hypo-plastic nails on both halluces Short toes NA NA
Hypoglycemia NA NA NA + + NA
Hypotonia + NA + + NA
Additional findings Obsessive interest for electronic objects and their accumulation, acute pancreatitis, cholecystectomy, liver steatosis     Urinary continence problems Umbilical hernia at birth, hyperactivity - PDD NOS/ADHD; obstipation   T cell skin lymphoma on the lower back; hypo-plastic nails, patchy eczema, thick ichthyic skin Cafe-au-lait spot:1 truncal; large hands and feet; urinary continence problems inverted nipples;   His skin is also very fair Cerebral visual impairment; ptosis
  1. NA not available, “+” feature present, “-” feature absent