Table 1

Phenotypes of patients with SETD1B variants.

PR 2
(Hiraide et al 4)
Individual 4Individual 2PR 1
(Hiraide et al 3)
PR 2
(Hiraide et al 3)
Individual 3Individual 1(Den et al 5)
SourceNAINSERM (Nantes)CAUSES G272NANABlueprint GeneticsCAUSES G482NA
Variantc.386T>G: p.(Val129Gly)c.2932C>T: p.(Gln978Ter)c.3964C>T: p.(Gln1322Ter)c.5524C>T: p.(Arg1885Trp)c.5575C>T:
p.(Arg1902Cys)
c.5833T>P: p.(Phe1945Leu)c.5589+1G>A:(p.?)c.5644_5647del:p.(Ile1882Serfs*118)
Class of variantMissenseNonsenseNonsenseMissenseMissenseMissensePossible splicingFrameshift
InheritanceDe novoDe novoDe novoDe novoDe novoDe novoDe novoDe novo
Additional gene variants of relevanceNoneNone+*None+*NoneNoneNone
Age at last follow-up (years)7121910343.510NA
SexMaleMaleFemaleFemaleMaleMaleMaleFemale
Growth
Weight (birth, SD)3008 g
(+0.82)
3930 g (+1.13)NA3550 g
(+1.4)
3600 g
(+1.5)
3062 g
(−0.60)
3402 g
(+0.11)
2750 g
(−1.6)
Head circumference (birth, SD)NA34.5 cm (+0.03)NA34.5 cm
(+1.1)
NANANA34 cm
(−0.1)
Length (birth, SD)50 cm
(+1.4)
53 cm (+1.65)NANANANANA45.2 cm
(−2.6)
Height (last follow-up, SD)124.6 cm
(−0.23)
147 cm
(−0.29)
172 cm
(+1.4)
143 cm
(+0.8)
176 cm
(+0.6)
104 cm
(+1.0)
146 cm (+0.5)NA
Weight (last follow-up, SD)28.8 kg
(+0.49)
70 kg
(+2.51)
66 kg
(+0.9)
52 kg
(+2.6)
92 kg
(+1.5)
16.6 kg
(+0.6)
33 kg
(−0.2)
NA
Head circumference (last follow-up, SD)54.5 cm
(+1.4)
54 cm (+0.14)†55 cm
(+0.63)†
NA55 cm
(−0.07)†
48.0 cm
(−1.3)
NANA
Development
Speech impairment+++NA+++
Developmental delayMotor development normal+++++++
Intellectual disability+
(IQ 56–64)
++
Mild
+
(TK-Binet IQ 64)
+
(TK-Binet IQ 10)
+++
Neurology
Seizures++++++++
Age of onset (years)3.62.5122.753.93.52.51.9
Multiple seizure typesMyoclonic absence seizures only++++++
Moderate, with ADHD
EEG abnormalities+NA++++++
Findings on brain imaging (modality)− (MRI)− (MRI)− (MRI)− (MRI)− (MRI)+ (MRI)+ (MRI)+
Autism++++++
  • + indicates a positive finding, − indicates the documented absence of a finding, and NA refers to results that were not documented or are not available.

  • Variants are numbered with reference to National Center for Biotechnology Information (NCBI) accession number NM_001353345.1.

  • †SD for head circumferences in children older than 17 years is unavailable so SD values for 17 years are used. All other anthropometric centiles are based on WHO growth charts.

  • **Individual 2 had a variant in CHRNA7 and inherited variants in LRPPRC, GLI2, TUBB2 and PTCH1. PR 2 had variants in KCNH7 and CNKSR2.3

  • ADHD, attention deficit hyperactivity disorder; CAUSES, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service.