FIGURE 2
FROM:
Mutations in R-Spondin 4 (RSPO4) Underlie Inherited Anonychia
Yoshiyuki Ishii, Muhammad Wajid, Hisham Bazzi, Katherine A Fantauzzo, Alison G Barber, Diana C Blaydon, Ju-Suk Nam, Jeong K Yoon, David Peter Kelsell and Angela M Christiano
BACK TO ARTICLEFigure 2.
Homozygous mutations in RSPO4 are responsible for anonychia in Pakistani families N1–N5. (a) Families N1, N2, and N4 have an IVS-1G>A mutation at the exon 2–intron 2 boundary. (b) Family N3 has a -9-+17del26 mutation in exon 1. (c) Family N5 has a 3G>A (M1I) mutation in exon 1. (d) Schematic of reported RSPO4 gene mutations. -9-+17del26: Pakistani P2 (Blaydon et al., 2006), Pakistani N3 (this study); 3G>A: Pakistani N5 (this study); IVS1+1G>A: Pakistani P4, Irish (Blaydon et al., 2006); IVS-1G>A: English E1 (Blaydon et al., 2006); 92_93insG: German (Bergmann et al., 2006); 95–110del16: Indian In1 (Blaydon et al., 2006); 194A>G: Finnish (Blaydon et al., 2006); 218G>A: German (Bergmann et al., 2006); IVS2-1G>A: Pakistani N1, N2, and N4 (this study); 284G>T: English E1 and E2 (Blaydon et al., 2006); 319T>C: Irish, English E2 (Blaydon et al., 2006); 353G>A: Pakistani P3 (Blaydon et al., 2006).
