Table 5 Pairwise statistical comparison of nonpolyalanine repeat expansion variants groupings.

From: Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype–phenotype correlation in congenital central hypoventilation syndrome (CCHS)

Phenotype

Variant type

NMD

Non-NMD

MS

Hypoventilation/apnea

NMD

 

0.018

-

Non-NMD

0.018

 

-

MS

-

-

 

Later-onset hypoventilation

NMD

 

0.009

-

Non-NMD

0.009

 

0.015

MS

-

0.015

 

24-hour artificial ventilation

NMD

 

<0.001

-

Non-NMD

<0.001

 

0.014

MS

-

0.014

 

Gastrointestinal symptoms

NMD

 

-

-

Non-NMD

-

 

0.004

MS

-

0.004

 

Hirschsprung disease (HSCR)

NMD

 

0.05

-

Non-NMD

0.05

 

0.006

MS

-

0.006

 

Long-segment aganglionosis HSCR

NMD

 

-

-

Non-NMD

-

 

0.011

MS

-

0.011

 

Neural crest tumors

NMD

 

-

-

Non-NMD

-

 

-

MS

-

-

 

Phenotype

Variant type

NMD

Non-NMD

MS

  1. MS missense, NMD nonsense-mediated decay.