Table 1 Clinical phenotype of the ASD patients with the identified ANXA1 duplication
From: Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders
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 2Â 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 |