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Table 5 Clinical findings associated with defects in NRXN1

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

NRXN1

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

N1

m, 14y

Severe

at 3y: max. 10 single words, lost this function

14mo

yes

2900 g

52 cm

34 cm

P25-P50

P25-P50

P90

yes,

puts objects in his mouth

large mouth, widely spaced teeth, upslanting palpebral fissures, strabism

hyperbreathing

N2

m, 6y

Severe

at 24mo: single words and two word combinations,

receptive better than expressive

16mo

none

3740 g

51 cm

38.5 cm

Normal

<P3

>P95

none

macrocephaly (also maternal and paternal), large mouth, retrogenia

muscular hypotonia, MRI: wide ventricles

N3

m, 3y 4mo

Severe

no active speech

14mo

none

3350 g

52 cm

35 cm

P50-P75

P75-P90

P50-P75

yes

none

none

N4

f, 16y

Severe

none

no

grand mal

4y

3530 g

51 cm

33 cm

P10-P25

P25-P50

<P5

yes,

hand licking

broad nasal tip, pointed chin

drooling, friendly

N5

m, 21y

Mild

impaired

not known

grand mal,

6y (until age 11y)

3300 g

51 cm

33 cm

P3-P10

<P3

P50

none

mild facial asymmetry, small ears, broad nose, broad mouth, bushy eye brows, high arched palate, cleft lip

pectus excavatum, single transverse palmar crease, choanal atresia, anal atresia, thick finger joints, ureter stenosis, delayed bone age, spondyloptosis L5/S1

N6

f, 6y 3mo

Mild

2 y: first words, speech delay mainly affecting active speech

21mo

none

2820 g

50 cm

35 cm

P10-P25

P3

P10-P25

none

protruding ears

muscular hypotonia (improved), scapulae alatae, mild lordosis, tendency to diarrhea

published biallelic defect

P3, Zweier et al. 2009

N = 1 [26]

f, 18y

Severe

none

2y

none

3450 g

normal

P50-P75

P50-P75

P25

yes, hypermotoric behavior

broad mouth, strabism, protruding tongue

excessive drooling, developmental regression, abnormal sleep-wake-cycles, decreased deep-tendon reflexes upper extremities, hyperbreathing

published heterozygous defects ass. with ASD

N = 18 [5, 9, 14, 16, 22]

 

7x normal [5], 3x learning problems [5, 14] 2x dev. Delay [5, 22], 3x mild ID [9, 14, 16], 2x moderate ID [5]

14x language delay [5, 14, 16, 22]

5x motor delay [5, 16]

1x yes [5]

not reported

not reported

11x ASD or Asperger syndrome [5, 9, 14, 16, 22]

11x mild dysmorphic features [5, 14, 16]

1x VACTERL association [5], 1x mild skeletal anomalies [16], 4x hypotonia, 2x ventricular septum defect, 3x hemangioma [5]

  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