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Table 3 Clinical information on patients with MEIS2 variants

From: Identification of novel candidate disease genes from de novo exonic copy number variants

Reference

Previous cases

       

Case number

Erdogan et al.; Chen et al.; Crowley et al.; Johansson et al. (5 cases in 2 families); Louw et al. (4 cases); Fujita et al.

Pt1

Pt2

Pt3

Pt4

Pt5

Pt6

Pt7 (DECIPHER 286841)

Gender

8 females; 6 males

Male

Male

Female

Male

Male

Male

Female

Variant

6 CNV del (123 kb – 5.6 Mb); 1 CNV dup (58 kb); 1 stop-gain; 1 frameshift

chr15: 37,328,986-37,332,249a

chr15: 35,001,138-39,899,594

chr15: 33,894,032-38,659,166

chr15: 35,001,138-38,474,933

chr15: 36,512,757-38,052,959a

chr15: 36,790,702-37,404,359a

chr15:36,606,006-37,515,525

3.2 kb del

4.9 Mb del

4.8 Mb del

3.47 Mb del

1.54 Mb del

0.6 Mb del

0.9 Mb del

Confirmation method

 

PCR + Sanger

FISH

FISH

FISH

PCR + Sanger

PCR + Sanger

Unknown

Affected genes

 

MEIS2

MEIS2 + 14 other genes

MEIS2 + 21 other genes

MEIS2 + 7 other genes

MEIS2 + 1 other gene

MEIS2 + 1 other gene

MEIS2

Inheritance

9 de novo; 4 inherited; 1 mosaic

De novo

De novo

De novo

Mat

Unknown

Unknown

De novo

Parental studies

 

CMA

FISH

FISH

FISH

N/A

N/A

Unknown

Cleft lip and cleft palate

12 out of 14

+

N/A

N/A

N/A

Bifid uvula

N/A

Bifid uvula

Cardiac malformation

Ventricular septal defect (7); atrial septal defect (2); LVOTO; CoA

NR

N/A

N/A

NR

NR

NR

Learning problems, aggressive behavior

Cognitive and behavioral phenotype

ID (7); delayed (6); ASD (2); LD (2)

NR

N/A

N/A

ASD

Global DD, ASD, ADHD

ASD?

Slower verbal development

Verbal developmental delay

4 out of 4

Possibly

N/A

N/A

NR

Delayed verbal milestones

Delayed language skills

NR

Motor developmental delay

12 out of 12

NR

N/A

N/A

NR

Delayed motor milestones

NR

NR

Walked at age

14 months – 3 years

NR

N/A

N/A

NR

2 years

NR

NR

Gastro-esophageal reflux

2 out of 2

NR

N/A

N/A

NR

NR

NR

NR

Other features

Hypotonia; prolapse of epiglottis; bilateral moderate hearing loss; agenesis of the right tympanic membrane; a gracile corpus callosum; congenital lobar emphysema, syndactyly; severe hypermetropia, severe constipation

NR

Hypertonia

MCA

NR

Asthma; sister with Ebstein’s cardiac anomaly; family history of ID; maternal prenatal cocaine use

NR

Calcaneovalgus, velopharyngeal insufficiency, asymmetric chest

  1. aCNV coordinates obtained using PCR and Sanger sequencing of breakpoint junction; note that Sanger sequencing of breakpoint junction PCR amplification product in Pt1 was affected by the homonucleotide tracts (poly-A/T) close by the breakpoint junction; therefore, the CNV coordinates in Pt1 were determined by the coordinates of the poly A/T tracts
  2. N/A not available, NR not reported, ID intellectual disability, ASD Autism Spectrum Disorder, LD learning disability, LVOTO left ventricular outflow tract obstruction, CoA coarctation of the aorta, CHD coronary heart disease, MCA multiple congenital anomalies, Mat maternal