Table 1.
Clinical phenotype of the ASD patients with the identified ANXA1 duplication
| ID | Sex | Geographical origin | Reported ancestry | ASD type | IQ level | Language | Motor, neurological, and sensory problems | Physical exam | Developmental history | Relevant medical history | Family type | Duplication inheritance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Fam1_201 |
Male |
Portugal |
European |
Autism |
Moderate ID |
Phrase speech delay; hyperlexia |
No |
Normal |
No regression; psychomotor development delayed |
Possible mitochondrial disease; sleep problems; rumination |
SPX |
Maternal |
| Fam2_201 |
Male |
Portugal |
European |
Autism |
Mild ID |
Abnormal speech; only isolated words |
No |
Normal |
No regression; psychomotor development delayed with an onset at 2 years |
None |
UNK |
Maternal |
| Fam3_201 |
Female |
Portugal |
European |
ASD |
Normal IQ |
No speech delay |
Clumsy child |
Myopia |
No regression and no psychomotor delayed development |
NA |
SPX |
Paternal |
| Fam4_201 |
Male |
Canada |
European |
Autism |
Moderate ID |
Severe language impairment; speech and oral motor deficit (i.e., apraxia); uses single words |
Possible history of seizures |
Normal |
No regression |
NA |
UNK |
Paternal |
| Fam5_201 |
Male |
USA |
European |
Autism |
Mild ID |
Phrase speech delay |
No |
Normal |
No regression |
None |
SPX |
Maternal |
| Fam6_203 |
Male |
USA |
European |
Autism |
Moderately impaired or delayed |
Verbal; no speech delay; articulation problems; abnormal prosody and modulation; stuttering; extreme to moderate low score on PPVT |
Gait abnormalities; repetitive movements (finger; knocking); sensory abnormalities; abnormal light touch; tactile defensiveness; dyskinesias elicited lateral foot walking |
Epicanthal folds; left absent tragus; café au lait |
Language regression at 15 months |
Gastroesophageal reflux; chronic diarrhoea and constipation; allergies and food sensitivity; sleep problems |
SPX |
Maternal |
| Fam7_201 |
Male |
Portugal |
European |
Autism |
Normal IQ |
No speech delay |
No |
Normal |
No regression; psychomotor development delayed |
Sleep problems |
UNK |
Maternal |
| Fam8_203 |
Female |
USA |
Hispanic/Latino |
Autism |
NA |
Verbal; phrase speech delay |
NA |
NA |
No regression |
NA |
SPX |
Both |
| Fam8_204 |
Female |
USA |
Hispanic/Latino |
Autism |
NA |
Verbal; phrase speech delay |
NA |
NA |
No regression |
NA |
SPX |
Both |
| Fam9_202 |
Male |
USA |
Hispanic/Latino |
Autism |
NA |
Verbal; phrase speech delay |
NA |
NA |
No regression |
NA |
MPX |
Paternal |
| Fam10_202 |
Male |
USA |
Hispanic/Latino |
Autism |
NA |
Non-verbal |
Gait abnormalities; repetitive movements (hand flapping, finger movements, body rocking); increased acoustic and tactile sensibility; tactile defensiveness |
Slanted posterior fontanel; low set and posterior angulation ears; bifid uvula; high arched palate; finger clinodactyly |
No regression |
Neonatal hyperbilirubinemia and anaemia |
MPX |
Maternal |
| Fam11_201 |
Male |
USA |
Hispanic/Latino |
Autism |
Moderately impaired or delayed |
Verbal; no speech delay; extreme to moderate low score on PPVT |
NA |
Normal |
Developmental and language regression |
NA |
MPX |
Paternal |
| Fam11_202 | Female | USA | Hispanic/Latino | Autism | Moderately impaired or delayed | Non-verbal; phrase speech delay; extreme to moderate low score on PPVT | NA | Normal | Regression | NA | MPX | Paternal |
PPVT, Peabody Picture Vocabulary Test; NA, no information available; SPX, simplex; MPX, multiplex; UNK, unknown.