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 | 2x f, 1x m, 10x not reported, 1-20y | Severe | 2x no, 1x single words [26], 10x yes, but regression [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 | 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] | 5x not reported [1, 3], 2x no [12, 33], 5x yes [3, 7, 21], 0y-34y | not reported | not reported | not reported | 1x multiple congenital malformations [33], 1x Gilles de la Tourette syndrome [12], 3x Schizophrenia [7] |