Cases (age) | Development | Phenotype | Neurocognitive features | Social cognition characteristics | Paraclinical parameters | Genetic alteration involving AUTS2 |
---|---|---|---|---|---|---|
Proband (13) | Walking at 2 years old Significant speech delay at 3 years old Global developmental delay and suspicion of ASD at 6 years old | Highly arched eyebrows Hypertelorism Strabismus Proptosis Downslanted palpebral fissure Thick alae nasi Short philtrum Large central incisors Everted upper lip Narrow mouth Prominent and large ears Retrognathia | Mild-moderate ID ASD | Qualitative anomaly in interactions and social communication Restricted, repetitive and stereotyped behavioral disorders | MRI normal EEG normal Hearing and sight functions normal Skeletal X-rays normal Urine and blood metabolic screening normal No urogenital or limb malformation | Duplication of exon 11–19 p.(Met593Tyrfs*85) (Chr7(GRCh37): g.70236569dup, ENST00000342771.4: c.1769dup in exon 11) CGH-array: no unbalanced chromosomal rearrangement |
Mother (49) | Early development normal Walking at about 1 year Pubertal development normal (menarche at age 13) | Highly arched and thick eyebrows Short philtrum Arched feet Shallow palmar creases | IQ in the borderline range (70 to 85) | Erotomania (persistent delusional disorder) Strong social anxiety | Brain MRI normal Blood screening normal No urogenital or limb malformation | |
Aunt 1 (50) | Early development unremarkable Walking before 2 years No language disorders | Heart-shaped face Soft fine hair Highly arched eyebrow High broad forehead Bilateral ptosis Large front teeth Mild micrognathia | IQ in the normal range | Strong social anxiety | Brain MRI normal Blood screening normal No urogenital or limb malformation | |
Aunt 2 (45) | Lack of eye contact at 6 months of age Hypotonic with few spontaneous social interactions Mild motor and significant speech delay after 3 years of age | Narrow sloping forehead Arched eyebrows Ptosis of eyelids Prominent nasal bridge Low hanging columella Small mouth orifice Thin upper lip Micrognathia Scoliosis Bilateral short fifth metacarpals Pes planus | ASD verbal IQ below 35 points: serious intellectual retardation | Limited eye-contact No access to verbal language Gestures or grunts to communicate | MRI normal EEG normal Hearing and sightl functions normal Skeletal X-rays: kyphoscoliosis Urine and blood metabolic screening normal No urogenital or limb malformation |