Table 1. Clinical findings in the two reported individuals with de novo TCF20 variants.
| Individual 1 | Individual 2 | Babbs et al., Family 1, Individual II-4 | Babbs et al., Family 1, Individual II-2 | Babbs et al., Family 2 | Babbs et al., Family 6 | |
|---|---|---|---|---|---|---|
| TCF20 variant | nonsense | frameshift | complex balanced intrachromosomal rearrangement disrupting TCF20 (parental germline mosaicism) | missense | frameshift | |
| c.955C>T (p.(Gln319*)) | c.3837del (p.(Asp1280Ilefs*71)) | seq[GRCh37] inv(22)(pter→p11.?2::q13.2→q13.1::q13.1→p11.?2::q13.1→q13.1::q13.2→qter g.[chr22:(8,300,001_12,200,000)ins40,709,620_42,634,698?inv;(8,300,001_12,200,000)_(39,507,139_39,511,083)inv;40,709,620_42,634,698del] | c.1534A>G (p.(Lys512Glu)) | c.3518delA (p.(Lys1173Argfs*5)) | ||
| Age at last examination (years) | 13 | 12 | n.r. | n.r. | n.r. | n.r. |
| Gender | male | male | male | male | male | female |
| Gestational weeks | 42 | 42 | n.r. | n.r. | n.r. | n.r. |
| Birth weight (g) | 4,050 (+0.5 SD) | 3,890 (+0.2 SD) | n.r. | n.r. | n.r. | n.r. |
| Birth length (cm) | 54 (+0.3 SD) | 54 (+0.3 SD) | n.r. | n.r. | n.r. | n.r. |
| Birth OFC (cm) | 36.5 (+0.3 SD) | 36 (−0.1 SD) | n.r. | n.r. | n.r. | n.r. |
| Height (cm) at last examination | 182 (+2.1 SD) | 171.5 (+2.1 SD) | n.r. | n.r. | n.r. | n.r. |
| Weight (kg) at last examination | 106.8 (+3.0 SD) | 80.7 (+2.5 SD) | n.r. | n.r. | n.r. | n.r. |
| BMI (kg/m2) | 32.3 | 27.4 | n.r. | n.r. | n.r. | n.r. |
| OFC (cm) at last examination | 59.5 (+3 SD) | 58.5 (+2.8 SD) | n.r. | n.r. | n.r. | n.r. |
| Tall stature | postnatal | postnatal | n.r. | n.r. | n.r. | n.r. |
| Advanced bone age | + | n.d. | n.r. | n.r. | n.r. | n.r. |
| Macrocephaly | postnatal | postnatal | n.r. | n.r. | n.r. | n.r. |
| ID | mild | mild | borderline intellectual functioning (IQ 79) | mild - moderate | − | moderate |
| Motor delay | + | + | n.r. | n.r. | n.r. | n.r. |
| Walking age (years) | 1.5 | 2.5 | n.r. | n.r. | n.r. | n.r. |
| Speech delay | + | + | n.r. | n.r. | n.r. | n.r. |
| First words (years) | 2.5 | 1 | n.r. | n.r. | n.r. | n.r. |
| Muscular hypotonia | + | + | n.r. | n.r. | n.r. | n.r. |
| Seizures | − | + | n.r. | n.r. | n.r. | n.r. |
| Brain anomalies (MRI) | − | − | n.r. | n.r. | n.r. | n.r. |
| ASD | − | + | + | + | + | + |
| Behavioural anomalies | atactic/stereotypic movements | aggressive, impulsive, attention-demanding | n.r. | n.r. | n.r. | n.r. |
| Organ malformations | − | − | − | − | − | − |
| Major craniofacial dysmorphism | − | − | craniosynostosis causing trigonocephaly, hypotelorism, mild exorbitism | − | n.r. | craniosynostosis |
| Somatic findings | mild scoliosis, gynaecomastia, inverted nipples, early pubic hair growth, small penis | inverted nipples, tapering fingers, sandal gap | n.r. | n.r. | n.r. | n.r. |
Abbreviations: ASD, autism spectrum disorder; BMI, Body mass index;ID, intellectual disability; MRI, cranial magnetic resonance imaging; n.d., not determined; n.r., not reported; OFC, head circumference; SD, standard deviations.