Table 2 Molecular findings in NRXN1
From: Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1
NRXN1 | Defect | Array Platform and details of NRXN1/CNTNAP2 deletion | Validation of Array data | Inheritance | Carrier parent | Other non-polymorphic CNVs | NRXN1 sequen-cing | CNTNAP2 sequen-cing |
|---|---|---|---|---|---|---|---|---|
N1 | NRXN1 deletion of exons 1-4 | Affymetrix 6.0 SNP Array chr2:50.860.393-51.208.000 348 kb (230 array marker) | MLPA as reported previously [26] | paternal | healthy, normal intelligence | none | no 2nd mutation | normal |
N2 | NRXN1 deletion of exons 1-18 | Agilent 244K+customized array chr2:50.270.203-51.257.206 987 kb | customized Oligonucleotide array | maternal | learning disabilities and behavioral problems | none | no 2nd mutation | normal |
N3 | NRXN1 deletion of exons 1-2 | Agilent 244A chr2:51.011.745-51.144.527 133 kb | qPCR as reported previously [31] | maternal | healthy | 21q22.3:44.534.530-44.820.473 pat dup Xp22.33:0.000.001-2.710.316 mat dup | no 2nd mutation | normal |
N4 | NRXN1 deletion of exons 1-4 | Agilent 244A chr2:50.800.974-51.286.171 425 kb | FISH analysis with BAC clones RP11-67N9 and RP11-643L22 | paternal | healthy | 15q26.1:88.028.337-88.072.545 mat del 16q12.1:50.773.658-51.135.179 mat dup | no 2nd mutation | normal |
N5 | NRXN1 deletion of exons 3-4 | Agilent 244A chr2:50.861.527-51.090.563, 229 kb | qPCR as reported previously [31] | paternal | muscular problems & stroke; parents consang. | none | no 2nd mutation | normal |
N6 | NRXN1 deletion of exons 1-2 | Agilent 244A chr2:51.033.865-51.496.143 462 kb | Agilent 244A of the parents | de novo | none | no 2nd mutation | normal | |
published biallelic defect P3, Zweier et al. 2009 n = 1 [26] | NRXN1 deletion of exons 1-4 + p.S979X | Affymetrix 6.0 SNP Array 113 kb | parents heterozygous carriers | healthy | ||||
published heterozygous defects ass. with ASD | 15x NRXN1 deletion [5, 14, 16, 22], 2x NRXN1 gain [14], 1x balanced chromosomal rearrangement disrupting NRXN1 [9] | 12x Agilent 244K [5], 3x NimbleGen custom arrays [14], 1x Affymetrix 100 K Assay [16], 1x Affymetrix 10 K Assay [22], 66 kb-5 Mb | 6x de novo [5, 16, 22]; 5x mat [5, 14]; 4x pat [5, 9]; 3x not available [5, 14] | 1x duplication 14q24 [14] |