TABLE 1.
Summary of patients with variants in GUS genes.
| Case | Sex | Age | Clinical picture | Gene | Variant, inheritance | Diagnosis by ‘traditional approach’ |
|---|---|---|---|---|---|---|
| 1 | M | 5 months | Hypotonia, reduced spontaneous motility, dysmorphisms, micrognathia, unilateral persistent hyperplastic primary vitreous, overgrowth | EPHA4 OMIM *602188 |
NM_001304536.2:c.935G>T p.Gly312Val, htz de novo |
No |
| 6 | M | 2 years 6 months | Developmental delay, epilepsy, aspecific brain anomalies, dysmorphisms, corneal leukoma | DTNA OMIM *601239 |
NM_001390.4:c.1670G>T p.Gly557Val, htz de novo |
Yes, MidXq28 duplication syndrome |
| 18 | F | 3 years 9 months | Moderate global developmental delay, sialorrhea, dysmorphisms | SYNCRIP OMIM *616686 |
NM_006372.5:c.787_790del p.Phe263fs, htz class 5 after publication (Gillentine et al., 2021) de novo |
No |
| 31 | M | 10 years 8 months | Moderate intellectual disability, EEG anomalies, dysmorphisms | NCOR1 OMIM *6008491 |
NM_006311.4:c.4243del p.Arg1415fs, htz mat (mosaic) |
No |
| 48 | M | 2 years 6 months | Developmental delay, hydrocephalus, aspecific brain anomalies, dysmorphisms, macrocephaly, overweight, recurrent fevers | TFDP1 OMIM *189902 |
NM_007111.5:c.500G>A p.Arg167Gln, htz de novo |
No |
| 54 | F | 4 years 8 months | Moderate developmental delay, autism | SPRED3 OMIM *609293 |
NM_001042522.3:c.1229G>T p.Arg410Leu, htz de novo |
No |
| 56 | M | 9 years | Intellectual disability, ADHD, epilepsy, macrocephaly | EDA2R OMIM *300276 |
NM_021783.5:c.349C>T p.Gln117ter, hemizygous mat |
No |
| 58 | F | 5 years 1 month | Dysmorphisms, strabismus, VSD and bicuspid aortic valve, umbilical hernia, brachydactyly | PHF12 OMIM *618645 |
NM_001033561.2:c.301C>T p.Arg101Trp, htz de novo |
No |
| PPP1R12A OMIM *602021 |
NM_002480.3:c.232C>T p.His78Tyr, htz de novo |
|||||
| 75 | M | 3 years 5 months | Severe developmental delay, microcephaly, severe microlissencephaly, agenesis of corpus callosum, epilepsy, spastic tetraparesis, laryngomalacia, bicuspid aortic valve, congenital hip dislocation, growth retardation, dysmorphisms | WDR91 OMIM *616303 |
NM_014149.4:c.511+1A>G, hmz mat/pat |
No |
| 84 | M | 10 years 11 months | Mild intellectual disability, ADHD, epilepsy and EEG anomalies, 4th‐5th finger clynodactyly | CDC42BPG OMIM *613991 |
NM_017525.3:c.1128dup p.Thr377fs, htz de novo |
No |
| 96 | M | 7 years 8 months | Intellectual disability, autism spectrum disorder, strabismus, Ebstein anomaly and ASD, intestinal invagination, dysmorphisms | CSNK1D OMIM *600864 |
NM_001893.6:c.672A>C p.Lys224Asn, htz de novo |
No |
| 104 | F | 6 years 10 months | Intellectual disability, microcephaly, dysmorphisms | EIF3H OMIM *603912 |
NM_003756.3:c.391C>T p.Arg131Trp, htz pat NM_003756.3:c.457+1G>C, htz mat |
No |
| 105 | M | 5 months | Developmental delay, partial agenesis of the corpus callosum, visual impairment, hyperbilirubinaemia | TMEM63B OMIM *619952 |
NM_018426.3:c.1738G>A p.Gly580Ser, htz de novo |
No |
| 116 | M | 3 months | Axial hypotonia, polymicrogyria, dolichocephaly, dysmorphisms | RIPPLY3 OMIM *609892 |
NM_018962.3:c.375del p.Glu125fs, htz de novo |
No |
Abbreviations: ADHD, attention deficit hyperactivity disorder; ASD, atrial septal defect; EEG electroencephalogram; hmz, homozygous; htz, heterozygous; mat, maternal; pat, paternal; VSD, ventricular septal defect.