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 | 7x normal [5], 3x learning problems [5, 14] 2x dev. Delay [5, 22], 3x mild ID [9, 14, 16], 2x moderate ID [5] | 1x yes [5] | not reported | not reported | 1x VACTERL association [5], 1x mild skeletal anomalies [16], 4x hypotonia, 2x ventricular septum defect, 3x hemangioma [5] |