Table 1 Laboratory findings, clinical features, and family histories of seven patients with 3p26.3 deletion involving CNTN6 gene
Patients | Age (year) | CNV sizes | Coordinates (hg18) | Inheritance | OMIM genes | Types of deletion | Reasons for referral | Other features | Family history of NDDs and/or neuropsychiatric disorders |
|---|---|---|---|---|---|---|---|---|---|
1 | 5 | 1.23 Mb | 535,618–1,763,192 | Unknown | CNTN6 | Whole gene | ASD, DD | Tantrums, aggression | Father: LD; mother: SZs, hearing loss, and mental health issue |
2 | 3 | 821.55 kb | 1,063,289–1,88,4842 | Unknown | CNTN6 | Whole gene | DD, SZs | Nystagmus, macrocephaly, frontal bossing, down-slanting palpebral fissures, high-arched palate | Paternal aunt: ID; maternal aunt, cousin, grandmother, and grandaunt: SZs |
3 | 11 | 93.95 kb | 1,124,286–1,218,241 | Unknown | CNTN6 | Exon 2 | DD, SZs, ID | Strabismus, regression in skills, headache | Father: LD; mother: SZs, schizophrenia, migraines; multiple members of maternal side: LD, ASD, SZs, depression, anxiety, bipolar disorder, schizophrenia |
4 | 6 | 106.77 kb | 1,227,323–1,334,091 | Unknown | CNTN6 | Exons 3–7 | DD, ASD | Tantrums | Maternal grandmother: depression |
5 | 2 | 115.87 kb | 1,266,963–1,382,828 | Unknown | CNTN6 | Exons 5–12 | DD, SZs | Schizencephaly, hydrocephaly, hydronephrosis, diabetes insipidus, hypothyroidism, right-sided spasticity and hemiparesis, cardiomyopathy | Adopted into family; adopted sibling: schizophrenia |
6 | 6 | 125.24 kb | 1,322,292–1,447,530 | Paternally inherited | CNTN6 | Exons 8–23 | SZs | Abnormal EEG | Father: del. CNTN6, normal phenotype; sister: del. CNTN6, SZs; mother and brother: without del. CNTN6, phenotypically normal; a maternal aunt: SZs |
7 | 1 | 244 kb | 1,124,286–1,419,226 | Unknown | CNTN6 | Exons 2–23 | Heart block | No | No |