Table 1

RET germline mutations identified in our series of HSCR patients.

Patient

Exon/Intron

Nucleotide change

Amino acid change

Parent origin of the mutation

Gender

Length of aganglionic segment

Ref.


HSCR 193

2

c.287A > C

p.Tyr96Ser

Mother

Female

Not Available

--

HSCR 133

3

c.466 G > T

p.Ala156Ser

De novo

Female

S-HSCR

--

HSCR 166

5

c.937 C > T

p.Arg313Trp

Mother

Male

Not Available

--

HSCR V135

5

c.988insC

p.R330PfsX353

Mother

Male

S-HSCR

--

HSCR 223

5

c.1042 C > T

p.Arg348Trp

Mother

Male

Not Available

--

HSCR 109

6

c.1118 C > T

p.Ala373Val

Father

Female

S-HSCR

[7]

HSCR 217

6

c.1118 C > T

p.Ala373Val

Mother

Male

S-HSCR

[7]

HSCR 220

6

c.1118 C > T

p.Ala373Val

Mother

Male

S-HSCR

[7]

HSCR 99

7

c.1267G > A

p.Gly423Arg

Mother

Female

S-HSCR

--

HSCR V67

7

c.1325T > C

p. Leu442Pro

Mother

Male

Not Available

--

HSCR 187

8

c.1627 T > A

p.Trp543Arg

De novo

Female

S-HSCR

--

HSCR 260

10

c.1859G > A

p.Cys620Tyr

Father

Male

L-HSCR

--

HSCR V24

14

c.2459G > A

p. Arg820His

De novo

Male

Not Available

--

HSCR 204

17

c.2858 C > T

p.Pro953Leu

Mother

Male

S-HSCR

--

HSCR 278

18

c.2944 C > T

p.Arg982Cys

Not Available

Male

S-HSCR

[19]

HSCR V22

18

c.2944 C > T

p.Arg982Cys

Father

Male

Not Available

[19]

HSCR 15

18

c. 2975 C > T

p.Pro992Leu

De novo

Male

L-HSCR

--

HSCR 151

19

c.3185 A > G

p.Tyr1062Cys

Mother

Female

S-HSCR

[20]

HSCR 198

19

c.3185 A > G

p.Tyr1062Cys

Father

Male

Not Available

[20]

HSCR 278

20

c*4delTCTTinsAAA

NA

Male

S-HSCR

--


Núñez-Torres et al. BMC Medical Genetics 2011 12:138   doi:10.1186/1471-2350-12-138

Open Data