Table 1 Clinical features of patients with the de novo heterozygous variant of WASF1 c.1516 (p.Arg506*) in previously reports and this report
Patient | Author; years | Sex | Age at last exam | Country | Seizure | Neurological (intellectual, motor and language development, etc.) | Craniofacial | Other |
|---|---|---|---|---|---|---|---|---|
1 | Ito et al.; 2018 [3] | male | 21 years | Canada | yes, onset at 8 years; focalwith occasional GTC | intellectual disability (severe to profound); hypotonia; single words; wide-based gait with poor balance; high pain tolerance | midface hypoplasia; deep set, strabismus, gray sclera | joint hyperflexibility; ankle valgus; long tapered fingers; narrow, pes planus, short forth toes; widely spaced nipples; cafe´ au lait macules; trouble sucking, reflux, easy choking; constipation |
2 | Ito et al.; 2018 [3] | male | 23 years | France | yes, onset at 6 years; absence and GTC | intellectual disability (moderate to severe); hypotonia; simple sentences | midface hypoplasia; exophthalmia | short third toes |
3 | Ito et al.; 2018 [3] | male | 23 years | France | no | intellectual disability (moderate to severe); no seizures; hypotonia; single words; wide-based gait with poor balance; high pain tolerance | strabismus | joint hyperflexibility; knee recurvatum; pes planus; feeding difficulties, reflux; constipation |
4 | Srivastava et al.;2021 [6] | male | 7 years | NA | yes, onset NA; focal seizures, reflex seizures | intellectual disability (moderate); seizure; axial hypotonia; no words; head banging, hitting | long face, simple ears; Strabismus, exotropia | pes planus; constipation |
5 | Yamamoto et al. 2021 [2] | female | 6 years | Japan | yes, onset NA | intellectual disability (severe); | midface hypoplasia; strabismus | ankle valgus; pes planus; feeding problems |
6 | this report | female | 2 year and 4 months | China | no | global developmental delay; motor developmental delay; cognitive impairment; delayed speech and language development; hypotonia | abnormal fundus examination | abnormality of the posterior hairline; melanocytic nevus; thick hair |
7 | this report | female | 1 year and 4 months | China | no | global developmental delay; motor developmental delay; cognitive impairment; delayed speech and language development; no obvious abnormality in muscle tone | strabismus | N/A |