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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 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
  1. PPVT, Peabody Picture Vocabulary Test; NA, no information available; SPX, simplex; MPX, multiplex; UNK, unknown.