Table 3 Genes recurrently mutated.

From: Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease

Genes

Family IDa

Patient and Family IDb

#Variants

P-value

LOD

FAT3

2, 3, 6

4: II.8, 7: III.1, 7: IV.1

6

0,0040

1,25

RHOBTB3

1, 5

0

2

0,0193

0,84

CNTN5

5, 8

0

2

0,1300

0,09

TSC2

2, 6

0

2

0,1360

0,30

FAT4

2, 5

3: III.1, 6: II.1

4

0,1660

0,75

DNAH9

2, 8

6: II.2

4

0,1830

0,47

IGSF10

1, 2

3: III.2

3

0,2670

0,00

PLEC

2, 8

0

2

0,4260

0,84

TTN

5, 6

4: II.2

3

0,9410

0,23

  1. P value significant after Bonferroni correction is in bold.
  2. aFamilies where both patients carry the same variant.
  3. bFamilies with variants in only one patient
Back to article page