Table 4 Likely pathogenic CNVs found in the cohort.

From: A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD

Case

CNV

Microarray nomenclature

Size (Kbp)

No. of genes

No. of genes in OMIM

Important genes

Phenotype

Gender/notes

#1015

Dup

arr[hg19] 1q21.3(153,568,824–154,833,332)x3

1264

39

26

GATAD2B

ASD, ID and obesity

F/–

#1127

Del

arr[hg19]2q31.2(179,396,924–179,629,278)x1

232

2

2

TTN (*188840)

ASD, epilepsy

M/–

#513

Dup

arr[hg19] 10q11.22q11.23(46,252,072–51,903,756)x3

5652

61

–

–

ASD and ID

F/–

#519

Del

arr[GRCh37] 9q21.2(79,995,119–80,139,559)x1

144

3

2

VPS13A (605978), GNA14 (604397)

MildID, ADHD

F/–

#547

Dup

arr[GRCh37] 8q12.1q12.3(56,379,919–63,866,456)x3

7487

43

21

CHD7 (*611238)

ptosis, extrahepatic portosystemic shunt type Ib, patent foramen ovale, left ventricular hypertrophy

M/–

#596

Del

arr[hg19] 8q22.2 (100,067,471–100,622,400)x1

555

3

 

VPS13B (*607817)

DD, obesity, ID, anxiety,diabetes mellitus

F/–

#597

Del

arr[GRCh37] 12p11.23(27,316,348–27,796,495)x1

480

7

3

PFFIBP1 (*603141)

recurrent otitis, seizure, precocious puberty, SLD, broad forehead, long eyelashes

F/

#633

Del

arr[hg19] 6q26(162,374,660–162,738,968)x1

364

1

1

PARK2

ASD

M/

#823

Del

arr[hg19] 5q34q35.1(165,498,746–169,954,911)x1

4456

42

29

KCNMB1 (603951)

DD, speech disorder, short frenulum, low weight, short stature, FD, speech delay, consanguineous parents

F/–

#829

Del

arr[GRCh37] 5p15.31p15.2(9,090,338–11,635,988)x1

2545

20

8

–

ID, strabismus, protruding ears brother of case #828

M/ + 1 PCNVCNV

#833

Del

arr[hg19] 1q21.1(145,252,423–145,888,926)x1

637

24

12

–

ASD

M/–

#847

Del

arr[hg19] 1p12p11.2(120,527,347–120,617,367)x1

90

1

1

NOTCH2

ASD and microcephaly

M/–

#852

Del

arr[hg19] 2q13(110,498,141–110,980,295)x1

482

11

3

NPHP1 (*607100)

Auditory processing disorder, LD, microcephaly

M/–

#956

Del

arr[hg19] 14q22.1q22.2(52,412,733–54,387,154)x1

1974

14

4

ACTR2, Rab-1A

Low weight, short stature, broad forehead, triangular face, everted lips, ogival palate, congenital cardiopathy, SLD

F/–

  1. Likely pathogenic CNVs (LPCNVs), found in the cohort, with the number of genes present in the region, listing some of the relevant genes and available phenotypes for each case.
  2. Dup duplication, Del  deletion, CAs congenital anomalies, DD developmental delay, ID non-specified intellectual disability, mildID mild intellectual disability, ModID moderate intellectual disability, SevID severe intellectual disability, ASD autism spectrum disorder, FD facial dysmorphisms, SLD speech and/or language delay/impairment, IUGR intrauterine growth restriction, ADHD attention-deficit/hyperactivity disorder, LD learning difficulty, ASD autism spectrum disorder, F female, M male.
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