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Table 6 Clinical findings associated with defects in CNTNAP2

From: Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1

CNTNAP2

Sex & Age

ID

Speech

Age of Walking

Seizures

age of onset

Birth parameters

Weight, Heigth, OFC

Weight

Height

OFC

Behavioral anomalies/

Stereotypies

Facial dysmorphisms

Other findings

C1

f, 8y

Severe

none

2y with aid, lost this function (3y)

yes, resist. to treatment

2430 g

45 cm

not reported

<P3

<P3

<P3

hand movements

synophrys, long eyelashes, prominent columella, short philtrum, arched palate, widely spaced teeth, prominent jaw

happy, affectionate, TOF, pyloric stenosis, vesicoureteric reflux, agenesis of labia minora, hirsutism, tapering fingers

C2

m, 18y

Severe

?

?

complex,

early onset

?

?

?

 

hyperbreathing, apnoe episodes

C3

f, 11y

Severe

few words, lost this function

2,5y, lost this function

3y

3510 g

P10

<P3

P10

yes

broad mouth, protruding tongue

develop. regression from 15 m, swallowing problems, nocturnal laughing, scoliosis, spastic tetraparesis, hyperreflexia, constipation, hyperbreathing

C4

Zweier et al., 2010 [28]

f, 7y

Profound

none

no

3-6mo

3400 g

P5

<P2

P50

yes

broad forehead, prominent ear lobes, widely spaced teeth, tented upper lip

exotropia, heterochromasia, high pain threshold, cold feet, sleeping problems, joint hyperlaxity

C5

f, 2y 8mo

Profound

none

no,

no crawling

none

4030 g

53 cm

38 cm

P75

P25-50

 

high arched palate, upslanting palpebral fissures, small teeth, prominent forehead

septo-optical dysplasia, MRI: agenesis of septum pellucidum

C6

f, 8y

Profound

none

no

yes, resist. to treatment

1160 g

35 cm

28 cm

<P3

<P3

<P5

 

mild synophrys, low set, large ears, fleshy ear lobes, thin upper lip, low frontal hairline

birth at 29th week of gestation, blindness, hydrocephalus, ductus arteriosus, syndactyly toes 2-3, hypotonia, spasticity of legs, obstipation, liquid uptake by PEG tube

C7

f, 8y

moderate to severe

simple

15mo

none

3860 g

54 cm

34 cm

P25-P50

P50

<P5

suspected in infancy

epicanthal folds, tented upper lip, short columella, bulbous nose

overfriendliness, pubertas praecox, delayed bone age, retentive memory, excessive empathy, autoagressive behavior, flat feet

published biallelic defects

N = 13 [24, 25]

2x f, 1x m, 10x not reported, 1-20y

Severe

2x no, 1x single words [26], 10x yes, but regression [24, 25]

2x normal, 1x not known [26], 10x 16mo-30mo [24, 25]

13x yes,

4mo-30mo

not reported

<P3-normal

not reported

<P3-P99

8x yes [24, 26], 1x tooth grinding and repetitive hand movements [26]

2x wide mouth and thick lips [26]

1x dry skin, 1x regression, 1x cerebellar hypoplasia,

3x hyperbreathing [26], 10x developmental regression with onset of seizures, 9x decreased deep tendon reflexes [24, 25], 4x MRI: cortical dysplasia [24], 1x MRI: leukomalacia, 1x hepatosplenomegaly [25]

published heterozygous

defects

N = 12 [1, 3, 7, 12, 21, 33]

 

6x not reported [1, 3, 21], 1x normal [7], 2x mild-moderate [3, 7], 3x severe [7, 12, 33]

6x not reported [1, 3, 21], 1x normal [7], 3x speech impairment [7, 12] 2x no [7, 33]

11x not reported [1, 3, 7, 12, 21], 1x no [33]

5x not reported [1, 3], 2x no [12, 33], 5x yes [3, 7, 21],

0y-34y

not reported

not reported

8x yes [1, 3, 7]

not reported

1x multiple congenital malformations [33], 1x Gilles de la Tourette syndrome [12], 3x Schizophrenia [7]

  1. TOF, tetralogy of Fallot; f, female; m, male; y, year; mo, month; ASD, autism spectrum disorder; published reports on CNTNAP2 and NRXN1: only papers containing clinical data are cited; ass., associated; P, centile; ass., associated