Table 4.
Summary of clinical information available for patients with TCF4 mutations identified by other large-scale sequencing studies (form supplementary information of De ligt et al. [11]; Hamdan et al. [13], Tan et al. [15], Grozeva et al. [12])
| Reference | Patient identification | TCF4 pathogenic variant | Clinical description | Previous genetic investigations |
|---|---|---|---|---|
| De Ligt et al. [11] | Trio 15 | de novo c.1727G>A, p.(Arg576Gln) | Female, 4 y-o: Moderate ID, feeding problems, recurrent otitis. Sitting: 22 months, walking 3,5 y-o; no speech. Mild dysmorphic features (epicanthic folds, a broad nasal tip and prominent ears). Hypotonia. Ataxic walking pattern. MRI: mildly enlarged ventricles without structural anomalies | CGH-array, 15q methylation, MECP2, EHMT1, UBE3A sequencing |
| Hamdan et al. [13] | Case 1045.400 | de novo c.1153 C>T, p.(Arg385*) | Male, 6 y-o: Severe ID. no stand nor walk without support, no speech. Hypotonia. Hypersalivation. No breathing problem. Had seizure once. Minor dysmorphy (wide mouth, bilateral single palmar creases, bilateral clinodactyly and overlapping 2nd toes). MRI: increased T2 and FLAIR signal in the periventricular regions, thin corpus callosum, myelination delay. | CGH-array, FMR1 CGG expansion testing, MECP2 sequencing, 15q methylation |
| Tan et al. [15] | Patient 5 | c.991–2 A>G, g.52927260 T>C | Female, 5 y-o: Global developmental delay, height and size: 10th percentile, minor facial dysmorphy. Myopia. MRI: tiny pineal cyst and peritrigonal white matter intensity | Karyotype, CGH-array, ZEB2 sequencing |
| Tan et al. [15] | Patient 6 | de novo c.990 G>A | Female, 7 y-o: Global developmental delay, facial dysmorphy (thick overfolded helix of the ear, wide mouth, coarse facial features, flat philtrum, bulbous nose). Ataxia. Strabismus. MRI: normal | CGH-array, FMR1 CGG expansion testing, SNRPN methylation, 17q deletion, MECP2 sequencing |
| Grozeva et al. [12] | UK10K_FINDWGA5411380 | c.550–1 G>A, g.52946888 C>T | Male: NA | NA |
| Grozeva et al. [12] | UK10K_FINDWGA5410771 | c.505 C>T, p.(Gln169*) | Male: NA | NA |
MRI: Magnetic resonance imaging; y-o: year-old; NA: non available. The variations are given according to hg19/GRC37 for the genomic nomenclature and the RefSeq transcript NM_001083962.1 for the cDNA nomenclature