Table 1.
Genotype and phenotype of RHD affected individuals
| Index Patienta | Origin | SIX2 Mutation (nucleotide)b | SIX2 Mutation (amino acid) | Kidney Ultrasoundc |
|---|---|---|---|---|
| P1 | Poland | 402 C->T (pnt) | Leu43Phe (het) | DYS(l)/VUR(r) |
| P2 | Poland | 997 C->T (F) | Pro241Leu (het) | CYS-DYS(r,l)/VUR(r,l) |
| P3 | Germany | 997 C->T (M) | Pro241Leu (het) | CYS-DYS(r,l) |
| P4 | Italy | 997 C->T (pnt) | Pro241Leu (het) | HYPO(r)/VUR(r) |
| P5 | Portugal | 1100–1101 GG->AA (pnt) | Asp276Asn (het) | CYS-DYS(r,l)/HYPO(r) |
| BMP4 mutation (nucleotide)b | BMP4 mutation (amino acid) | |||
|---|---|---|---|---|
| P6 | Poland | 272 C->G (pnt) | Ser91Cys (het) | AGEN(r) |
| P7 | Germany | 272 C->G (F) | Ser91Cys (het) | DYS(l)/VUR(r) |
| P8 | Turkey | 347 C->G (de novo) | de novo Thr116Ser (het) | HYPO(r)/VUR(l) |
| P9 | Turkey | 450 C->G (pnt) | Asn150Lys (het) | HYPO(r) |
| P10 | Turkey | 450 C->G (F,M) | Asn150Lys (homo) | CYS-DYS(r,l) |
a
Patients, n = 250; controls, n = 150.
b
Transmitted from father (F), mother (M), de novo, or parents not tested (pnt).
c
DYS, dysplasia; VUR, vesicoureteral reflux; CYS-DYS, cystic dysplasia; HYPO, hypoplasia; AGEN, agenesis; l, left; r, right.