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Table 1 Summary of characteristics of the five members of the family carrying the AUTS2 mutation

From: Erotomania and phenotypic continuum in a family frameshift variant of AUTS2: a case report and review

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