Table 3. Summary of CNVs involving KIRREL3 interacting proteins MYO16, MAP1B, and ATP1B1 in patients with neurodevelopmental disorders.
| Patient ID and Phenotype | CNV | Chromosomal Location* | Interval | OMIM Genes | Reference |
|---|---|---|---|---|---|
| DGDP067A Receptive-expressive language disorder, microcephaly, visual impairment, astigmatism, strabismus, torticollis, significant delay in cognitive and motor development | DEL, ring chr | 13q33.3 n/a—n/a | ~10.7 Mb | 25 genes including MYO16 | Present study |
| DEL, inherited from normal mother | 7q36.3 n/a—n/a | 717 kb | - | Present study | |
| 10–12641 History of developmental delay, ADHD, autism, microcephaly, congenital grouped pigmentation of the retinal pigment epithelium, abnormal white matter on cranial MRI | DEL | 13q33.3q34 106,919,677–109,954,934 | 3.04 Mb | 6 genes including MYO16 | Present study |
| DUP | 12q24.31 123,522,421–123,785,941 | 264 kb | NCOR2 | Present study | |
| DEL | 11p15.4 6,739,589–6,850,118 | 111 kb | - | Present study | |
| 10–17471 Intellectual disability, seizures, borderline microcephaly, normal cranial MRI | DEL de novo | 5q13.2 71,221,928–72,188,118 | 966 kb | 3 genes including MAP1B | Present study |
| DEL de novo | 7q21.11 79,661,304–84,240,429 | 4.6 Mb | 8 genes | Present study | |
| 1056/9897 Moderate intellectual disability, upslanting palpebral fissures, retrognathia | DEL | chr13: 107,190,506–109,368,996 | 2.09 Mb | 6 genes including MYO16 | [8–9] |
| DECIPHER 280488 Global developmental delay | DEL | chr13: 106,884,343–110,711,191 | 3.83 Mb | 8 genes including MYO16 | [10–11] |
| DECIPHER 280995 Intellectual disability, moderate behavioral/psychiatric abnormality, seizures, constitutive in mother; Mother affected with related or similar phenotype | DEL, maternal | chr13: 102,864,674–109,548,530 | 6.68 Mb | 17 genes including MYO16 | [10–11] |
| DECIPHER 2365 Intellectual disability, coarse facial features, self-mutilation | DEL | chr1: 166,047,706–171,783,874 | 5.74 Mb | 47 genes including ATP1B1 | [10–11] |
| DECIPHER 253856 Intellectual disability, abnormality of the face, horseshoe kidney, malformation of the heart and great vessels | DEL | chr1: 164,501,003–171,424,595 | 6.92 Mb | 51 genes including ATP1B1 | [10–11] |
| DECIPHER 285697 Intellectual disability, coarse facial features, self-mutilation | DEL | chr1: 167,238,254–171,783,874 | 5.74 Mb | 47 genes including ATP1B1 | [10–11] |
*NCBI Build 36