Table 1.
Clinical features of the patients with point mutations and copy number variants involving USP14.
| Family | Family 1 | Family 1 | Family 2 | Family 3 | Turgut et al., 2021 | Turgut et al., 2021 | Turgut et al., 2021 |
|---|---|---|---|---|---|---|---|
| Individual | P1 | P2 | P3 | P4 | P6 – fetus 1 | P6 – fetus 2 | P6 – fetus 3 |
| Variant type | Compound heterozygous missense + nonsense | Compound heterozygous missense + nonsense | homozygous frameshift | homozygous frameshift | homozygous frameshift | homozygous frameshift | homozygous frameshift |
| Variant (NM_005151.4) | c.8T>C, p.Leu3Pro; c.988C>T, p.Arg330* | c.8T>C, p.Leu3Pro; c.988C>T, p.Arg330* | c.899_902del, p.Lys300Serfs*24 | c.233_236del p.Leu78Glnfs*11 | c.233_236del; p.Leu78Glnfs*11 | c.233_236del; p.Leu78Glnfs*11 | c.233_236del; p.Leu78Glnfs*11 |
| Gender | M | F | M | ND | M | M | M |
| Age at last follow up | 18y | 16y | NA | 2 days | NA | NA | NA |
| Birth term (WG) | 38 | 38 | PTP 29+4 weeks of gestation | Premature birth at 29 weeks of gestation | PTP at 27 weeks of gestation | PTP at 20 weeks of gestation | PTP at 21+4 weeks of gestation |
| Pregnancy complications | – | – | NA | – | polyhydramnios | polyhydramnios | hydramnios |
| Birth weight (grams/SD) | 4020 | 2840 | 1224 | ND | 950 (−0.3SD) | 380 | 460 |
| Birth length (cm/SD) | nd | 48 | 34 | ND | 30 (−2.43 SD) | 25 | 25 |
| OFC at birth (cm/SD) | nd | 34 | 27 | ND | 24.5 (−0.47 SD) | 19 | 19.5 |
| DD/ID | + | + | NA | NA | NA | NA | NA |
| Hypotonia | – | – | NA | NA | NA | NA | NA |
| Speech impairment | + | + | NA | NA | NA | NA | NA |
| Abnormal brain imagery | – | – | + | + | NA | + | + |
| Congenital malformations/additional findings | Severe scoliosis (surgery at 17y) | Severe scoliosis (surgery at 15y) | hypospadias | VSD, Fallot | no | no | no |
| Abnormal extremities | – | – | + | + | + | + | + |
| Ophthalmological findings | Optic neuropathy | Optic neuropathy | NA | NA | NA | NA | NA |
| Dysmorphic features | + | + | + | ND | + | + | + |
M: male, F: female; ND: not determined; SD: standard deviation; OFC: occipital frontal circumference: PTP: premature termination of pregnancy; DD/ID: developmental delay/intellectual disability, VSD: ventricular septal defect.