Table 1 Characteristics of the patients and pre-screening results.
From: Exome sequencing reveals a high genetic heterogeneity on familial Hirschsprung disease
Family ID | Patient ID | Gender | Phenotype | Pre-screeninge | Inheritance | RET enhancer SNP (rs2435357) |
|---|---|---|---|---|---|---|
1 | III.3 | Male | TCAa | Negative | – | T/T |
1 | II.2 | Male | NAb | RET : c.2371T > A:p.Tyr791Asn | Maternal | T/C |
2 | II.4 | Female | S-HSCRc | Negative | – | T/C |
2 | II.5 | Male | S-HSCR | Negative | – | T/C |
3 | III.1 | Male | S-HSCR | NTF3 : c.226G > A:p.Gly76Arg | Paternal | T/T |
3 | III.2 | Male | L-HSCRd | PHOX2B: c.741_761del SEMA3D:c.185_186insT:p.Leu62fs | Maternal | C/C |
4 | II.2 | Male | NA | PHOX2B: c.745_765del | Maternal | T/T |
4 | II.8 | Female | S-HSCR | Negative | – | T/C |
5 | I.2 | Female | NA | Negative | – | C/C |
5 | II.1 | Female | L-HSCR | RET: c.844G > T:p.Val282Leu | Paternal | C/C |
6 | II.2 | Male | NA | Negative | – | T/C |
6 | II.1 | Male | NA | Negative | – | T/C |
7 | III.1 | Male | S-HSCR | Negative | – | T/T |
7 | IV.1 | Male | S-HSCR | SEMA3D : c.592G > A:p.Glu198Lys | Maternal | T/C |
8 | II.1 | Male | NA | EDNRB : c.466C > T:p.Pro156Ser | Paternal | T/T |
8 | II.2 | Male | NA | EDNRB : c.466C > T:p.Pro156Ser | Paternal | T/T |
