Table 2.

Distribution of the mutations found in the 84 sporadic HSCR patients analyzed.1

PatientsPhenotype/GenderRETEDNRBEDN3GDNF
222LSA/FR114H3
66TCA/FV145G4 (new)
83TCA/Fc1685_1690 + 4del4 (new)E48D5 (new)
99ATCA/MV636fsX14 (new)
13 patients7 LSA and 6 TCA
12SSA/MIVS11 + 15(15_36del)6 (new)
6SSA/MR114H7
17SSA/MM1064T7
192SSA/FR114H5
25SSA/MF961L4 (new)N426N3 (new)
26SSA/MY483X4 (new)
32SSA/MR694Q5 (new)
36SSA/MR114H5
42SSA/Fp.P383_L386delinsP6 (new)
55SSA/FT120T4 (new)/G954G4 (new)
59SSA/MD241D3 (new)
61SSA/MIVS4 −14T>C5 (new)
72SSA/M5′UT −19C>A4 (new)
74SSA/MR114H7
93SSA/FR114H6
972SSA/M5′UT −37G>C5 (new)
51 patientsSSA