Table 1 Clinical features of 19 patients with chromosomal deletions partially overlapping 1p13.2
From: A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree
Patients (Gender) | Chr. Band (hg19: Chr. position) | Size (Mb) | Other genetic CNVs or SNVs | Short stature | Neck abnormality | Facial features | Intellectual disability | Language impairments | Delayed gross motor development | Epilepsy | Behavioral problems | Inheritance | NRAS deleted | Reference/ Patient ID |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P1 (M) | 1p13p22.3 (NR) | NR | No | - | Short neck | + | ND | + | + | ND | ND | de novo | + | |
P2 (F) | 1p13.1p21.1 (Max.: chr1:102,446,359–116,491,030; Min.: chr1:103,804,508–115,747,737) | 11.9–14.0 | No | + | Webbed neck | + | + | + | + | + | ND | de novo | + | [12] |
P3 (F) | 1p13.1p13.2 (Min.: chr1:114,609,456–116,035,987) | 1.4–3.1 | No | ND | ND | + | + | + | + | ND | + | de novo | + | [13] |
P4 (M) | 1p13.2 (chr1:112,096,417–115,805,157) | 3.71 | No | + | Broad neck | + | + | + | + | ND | ND | de novo | + | [14] /Patient ID: 274,660 |
P5 (M) | 1p13.2 (NR) | 5.3 | SCN8A c.3967G > A (het) | + | ND | + | + | + | + | + | ND | de novo | + | |
P6 (M) | 1p13.2 (chr1:114,012,621–114,185,094) | 0.172 | 2p12 (chr2:78,495,678–78,716,453) dup | ND | ND | ND | ND | ND | ND | ND | ND | unknown | - | Patient ID: 371,208 |
P7 (M) | 1p13.2 (chr1:114,189,096–114,733,279) | 0.544 | 16q22.2 (chr16:72,348,999–72,733,544) del | ND | ND | ND | ND | ND | ND | ND | + | unknown | - | Patient ID: 288,445 |
P8 (F) | 1p13.2 (chr1:113,525,828–115,713,872) | 2.19 | No | - | ND | + | + | + | + | ND | ND | de novo | + | Patient ID: 258,063 |
P9 (NR) | 1p13.2 (chr1:113,377,785–115,715,743) | 2.34 | 19p12 (chr19:23,255,525–23,689,288) del | ND | ND | + | + | ND | ND | ND | ND | de novo | + | Patient ID: 289,046 |
P10 (M) | 1p13.1p13.2 (chr1:113,268,038–117,119,460) | 3.85 | No | ND | Short neck | ND | + | + | + | ND | ND | de novo | + | Patient ID: 253,793 |
P11 (F) | 1p12p13.2 (chr1:113,709,879–118,344,568) | 4.63 | No | + | ND | + | + | ND | ND | ND | ND | unknown | + | Patient ID: 351,409 |
P12 (M) | 1p13.1p13.3 (chr1:111,146,019–116,382,675) | 5.24 | No | ND | ND | ND | ND | ND | ND | ND | ND | unknown | + | Patient ID: 305,699 |
P13 (F) | 1p11.2p13.2(chr1:112,633,589–121,281,170) | 8.64 | No | + | ND | ND | + | + | + | ND | ND | unknown | + | Patient ID: 295,430 |
P14 (M) | 1p13.2p21.1 (chr1:102,734,224–114,766,687) | 12.03 | No | ND | ND | ND | ND | ND | ND | ND | ND | unknown | - | Patient ID: 472,268 |
P15 (M) | 1p13.1p21.1 (chr1:103,782,322–117,597,970) | 13.82 | No | ND | ND | ND | ND | ND | ND | ND | ND | de novo | + | Patient ID: 281,269 |
P16 (F) | 1p12p21.1 (chr1:105,976,094–120,529,725) | 14.55 | No | + | Short neck | ND | + | ND | + | ND | ND | de novo | + | Patient ID: 250,335 |
P17 (F) | 1p12p21.2 (chr1:102,021,465–119,737,478) | 17.71 | No | ND | ND | ND | + | ND | ND | + | ND | de novo | + | Patient ID: 428,943 |
P18 (F) | 1p13.2p21.3 (chr1:94,791,819–113,667,311) | 18.88 | No | ND | ND | ND | ND | ND | ND | ND | ND | de novo | - | Patient ID: 279,246 |
P19 (F) | 1p13.2(chr1:113,536,526–114,944,597) | 1.41 | No | - | + | + | + | + | ND | - | - | maternally inherited | - | Current study |