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Table 1 Deletions in the NRXN1 gene in clinical referrals for array CGH analysis in the present study

From: NRXN1 deletions identified by array comparative genome hybridisation in a clinical case series – further understanding of the relevance of NRXN1 to neurodevelopmental disorders

Patient Start (hg19) Stop (hg19) Size (kb) Exons Inheritance Other imbalances Referral indication Age (yrs)
1 50,318,520 51,260,612 942 1-20 Paternal - Developmental delay 3
2 51,116,137 51,260,612 144 1-5 De novo - Developmental delay, failure to thrive, pulmonary stenosis, hearing disorder, microcephaly, short stature, ?Noonan syndrome 1
3 51,205,906 51,260,612 55 1-3 N.A. - Learning difficulties 9
4 51,245,074 51,260,612 16 1-3 N.A. 13q31.1(85,376,208-86,370,409)x1 ADHD, learning disability 41
5 51,245,074 51,260,612 16 1-3 N.A. - Developmental delay 4
6 51,251,498 51,260,612 9 1-3 N.A. - Delayed (atypical) cognitive development, speech & language development disorder, motor skills development disorder 1
7 51,251,498 51,260,612 9 1-3 N.A. - Marked developmental delay, marked hypotonia (generalised), hypoplastic nails 2
8 51,221,421 51,230,518 9 (intron 3) N.A. - ?Peutz-Jegher syndrome 11
9 51,180,561 51,199,026 18 (intron 3) N.A. - Developmental delay, autism 2
10 50,850,691 51,153,106 302 4-7 N.A. - Developmental delay, speech delay 3
11 50,957,455 51,199,026 242 4-5 De novo 7q35(145,650,395-146,558,801)x1 pat (CNTNAP2) Early-onset epilepsy, myoclonic seizures, speech delay 5
12 50,937,444 51,166,725 229 4-5 Maternal 14q21.1(41,234,592-41,532,307)x1 mat Developmental delay 6
13 51,037,104 51,153,106 116 4-5 N.A. - Developmental delay, epilepsy, dystonia, microcephaly, squint 2
14 51,037,104 51,153,106 116 4-5 N.A. - Autism 7
15 51,072,302 51,172,182 100 4-5 N.A. - Amenorrhoea, premature ovarian failure 32
16 51,153,052 51,189,385 36 4 N.A. - Anterior anus 0
17 50,902,782 51,148,567 246 (intron 5) Maternal 7q11.23(72,700,414-73,777,326)x1 (Williams Beuren syndrome) Developmental delay, microcephaly, behaviour problems 4
18 51,008,023 51,122,150 114 (intron 5) N.A. - Developmental delay, speech delay, small mouth, microcephaly 10
19 51,075,491 51,148,567 73 (intron 5) N.A. - Congenital heart defect 0
20 51,043,498 51,109,749 66 (intron 5) N.A. - Developmental delay, speech delay, social communication difficulties 3
21 51,043,498 51,088,201 45 (intron 5) N.A. - Behavioural problems 6
22 51,021,452 51,049,704 28 (intron 5) N.A. - Autism, moderate learning difficulties 11
23 51,049,645 51,066,637 17 (intron 5) Maternal - Dysmorphic, ?bronchiolitis 0
24 51,049,645 51,066,637 17 (intron 5) Maternal - Interuterine growth retardation, pitting oedema, duplex right kidney, undescended right testis, single palmar creases 0
25 51,100,412 51,113,311 13 (intron 5) N.A. - Myoclonic epilepsy episodes since six weeks of age 0
27 50,902,782 50,943,419 41 (intron 5) Paternal - Speech delay, social communication difficulties 5
28 50,982,113 51,003,663 22 (intron 5) N.A. 22q11.21(18,896,971-21,377,825)x3 (22q11.2 duplication syndrome) Autism 10
29 50,982,113 51,003,663 22 (intron 5) N.A.   Dysplastic kidneys, ventral-septal defect,cryptorchidism 0
30 50,918,448 50,933,351 15 (intron 5) Maternal 22q11.21(18,896,972-21,440,514)x3 dn (22q11.2 duplication syndrome) Epilepsy with focal seizures 11
31 50,943,360 50,957,514 14 (intron 5) N.A. - Learning difficulties, ADHD, autism 7
32 50,505,606 50,909,824 404 6-18 De novo - Developmental delay, severe speech delay 5
26 50,775,890 51,037,163 261 6-10 De novo - Developmental delay, hypotonia, speech delay 6
33 50,744,594 50,831,617 87 10-13 N.A. - Developmental delay 1
34 50,450,675 50,600,302 150 19 N.A. 8q23.3(113,960,008-114,131,155)x1 (CSMD3) Developmental delay, autism 4
  1. “Patient” refers to numbering in the text. “Inheritance” indicates if the imbalance was inherited (and if so from which parent, or de novo. N.A. is not assessed). Age (yrs) is age at testing.