Skip to main content

Table 1 Genotype combination and the related phenotype in the studied patients

From: Genetic pattern of SMN1, SMN2, and NAIP genes in prognosis of SMA patients

Genotype§

Clinical type

Number of patients

D1(NAIP del + 1 copy SMN2)

I

8

II

0

III

0

D2(NAIP del + 2 copy SMN2)

I

4

II

1

III

0

D3(NAIP del + 3 copy SMN2)

I

0

II

3

III

0

D4(NAIP del + > 3 copy SMN2)

I

0

II

2

III

8a

N1(NAIP no del + 1 copy SMN2)

I

6

II

0

III

0

N2(NAIP no del + 2 copy SMN2)

I

2

II

5a

III

0

N3(NAIP no del + 3 copy SMN2)

I

0

II

0

III

2

N4(NAIP no del + > 3 copy SMN2)

I

0

II

2

III

1

  1. aSignificant differences with p value < 0.01
  2. §The letter D and N indicate deletion and no deletion of exon 5 of NAIP gene, and the associated number is SMN2 CNV