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

ASD autism spectrum disorder, CNV copy number variation, del. deletion, DD developmental delay, EEG electroencephalogram, ID intellectual disability, LD learning disability, NDD neurodevelopmental disorder, SZs seizures