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Table 1 NDD and psychiatric phenotypes in individuals heterozygous for variants disrupting DMXL2

From: Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders

Case #

Sourcea

Variant type

Variant details

Individual

Sex

Age group

Inheritance

Reported NDD phenotype(s)

ASD

DD/ID

ADHD

SCZ/psychosis

Other

1

This report

Multigene loss

chr15:51,670,601–51,933,000 × 1

262,400 bp (DMXL2, GLDN)

Proband (II-1)

F

Adult

Pat

+

+

+b

2

Daughter (III-1)

F

Child

Mat

+

+/−

+b

3

Father (I-1)

M

Adult

N.D.

+b

4

DECIPHER

Multigene loss

chr15:51,568,830–51,843,305 × 1

274,476 bp (DMXL2, GLDN, CYP19A1)

Proband

M

Adult

N.D.

+

+

+

5

Canadian laboratory

Intragenic loss

chr15:51,806,694–51,843,305 × 1

36,612 bp (DMXL2)

Proband

M

Child

N.D.

+

6

Lineagen laboratory

Intragenic gain

chr15:51,717,028–51,792,612 × 3

75,585 bp (DMXL2)

Proband

M

Child

N.D.

+

+

+c

7

Intragenic gain

chr15:51,708,028–51,874,928 × 3

166,901 bp (DMXL2)

Proband

M

Child

Pat

+

+d

8

Multigene loss

chr15:51,735,136–52,620,104 × 1

884,969 bp (DMXL2 and 12 other genes)

Proband

F

Adult

N.D.

+

+

+e

9

Twin sister

F

Adult

N.D.

+

10

Multigene gainf

chr15:50,848,381–51,741,314 × 3

892,934 bp (DMXL2, GLDN, and 7 other genes)

Proband

M

Child

N.D.

11

Siblingg

F

Child

N.D.

12

PGC CNV data

Multigene gainf

chr15:50,888,568–51,748,611 × 3

860,044 bp (DMXL2, GLDN, and 7 other genes)

Proband

M

Adult

N.D.

+

13

Multigene gainf

chr15:50,892,945–51,748,611 × 3

855,667 bp (DMXL2, GLDN, and 7 other genes)

Proband

F

Adult

N.D.

+

14

Autism Speaks MSSNG WGS data

LoF SNV

c.9081dupT [p.N3028_I3029delinsX]

Proband

M

Child

N.D.

+

15

LoF SNV

c.4387dupC [p.Q1463fs]

Probandh

F

Child

Pat

+

16

LoF SNV

c.2239C>T [p.R747X]

Proband

M

Child

Mat

+

17

LoF SNV

c.1618-2A>G

Proband

M

Child

Pat

+

  1. Reported physical phenotypes not described elsewhere include: case #5 with mildly coarse features, dental caries, pyloric stenosis, bleeding disorder, and undergrowth; case #8 with coarctation of the aorta; case #10 with short stature and growth hormone deficiency; and case #11 with short stature and short fifth metacarpal. See the “Methods” section for details. There is no mention of psychiatric phenotyping of individuals heterozygous for an in-frame deletion in DMXL2 in the family published by Tata and colleagues [42]
  2. ADHD, attention-deficit/hyperactivity disorder; ASD, autism spectrum disorder; CMA, chromosomal microarray; CNV, copy number variation; DD, developmental delay; F, female; ID, intellectual disability; LoF, loss of function; M, male; Mat, maternal; N.D., not determined; Pat, paternal; PGC, Psychiatric Genomics Consortium; SCZ, schizophrenia; SNV, single nucleotide variant; WGS, whole-genome sequencing
  3. aSee the “Methods” section for details
  4. bSee the “Results” section for details
  5. cEncephalopathy, speech delay, aggression/behavior issues, and vocal tics
  6. dUnilateral ptosis, hypotonia, toe walking, and some sensory and behavioral issues
  7. eBipolar affective disorder, anxiety, and one episode of catatonia
  8. fBreakpoint lies within genomic extent of DMXL2
  9. gAlso with inv(5)(q13.3q33.1)
  10. hAlso with 15q11.2-q13.3 gain