Table 2 Laboratory findings, clinical features, and family histories of seven patients with 3p26.3 duplication 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 |
|---|---|---|---|---|---|---|---|---|---|
8 | 7 | 718.82 kb | 476,636–1,195,459 | Maternally inherited | CNTN6 | Upstream and exons 1–2 | DD, SZs | ADHD, DBD, abnormal EEG, macrocephaly, epicanthal folds, high and wide nasal bridge, broad nasal tip, large central incisors | Mother: normal phenotype; father: schizophrenia, alcoholic; sister: DD; maternal half brother: ADHD, hearing loss, anxiety |
9 | 8 | 541.62 kb | 855,662–1,397,284 | Unknown | CNTN6 | Upstream and exons 1–17 | DD | Short stature, reflux | Father: depression; mother: ADHD, anxiety |
10 | 6 | 199.60 kb | 1,124,286–1,323,884 | Unknown | CNTN6 | Exons 2–7 | DD | Short stature, reflux, joint hypermobility, microcephaly, low anterior hairline, second and third toe syndactyly | A sister: ASD, microcephaly; another sister: microcephaly; brother: ASD; paternal half brother: ADHD; both parents: microcephaly; paternal grandmother: seizures |
11 | 7 | 489.60 kb | 1,172622–1,662,216 | Paternally inherited | CNTN6 | Exons 3–23 and downstream | DD, ASD, SZs | LD, ADHD, ODD, VSD, feeding difficulties, failure to thrive, brachycephaly, upswept anterior hairline, unusual large hallux, and short second toe | Father: bipolar disorder and ADHD; brother: ADHD, ODD; paternal twin half sisters: DD; mother: bipolar disorder, migraines; maternal grandaunt: migraine |
12 | 9 | 281 kb | 1,189,367–1,470,327 | Unknown | CNTN6 | Exons 4–23 and downstream | LD | No | Father: ID, ADHD, bipolar disorder, depression; mother: bipolar disorder, depression; sibling: LD; sister: ID |
13 | 15 | 886.76 kb | 243,741–1,130,505 | Maternally inherited | CHL1, CNTN6 | Whole CHL1 and exons 1 of CNTN6 | Obesity, ADHD, bipolar | OCD, migraine, scoliosis, fibromyalgia, rheumatoid arthritis, asthma, irritable bowel syndrome | Mother: migraines, fibromyalgia, psychiatric problem; twin brother and sister: bipolar disorder; maternal half sister: ADHD, psychiatric problems; paternal grandmother: migraines |
14 | 16 | 2.05 Mb | 413,294–2,465,270 | Unknown | CHL1, CNTN6, CNTN4 | Exons 23–25 of CHL1, CNTN6 and exons 1–2 of CNTN4 | DD, SZs, dysmorphic | ADHD, OCD, sensorineural hearing loss, asymmetric face, left esotropia, bilateral ptosis, high-arched palate, short stature, single palmar creases, fifth finger clinodactyly, cranial nerve palsy, micropenis | Father: depression; paternal cousin: ASD |