Mutations in R-Spondin 4 (RSPO4) Underlie Inherited Anonychia

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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, Angela M. Christiano Journal of Investigative Dermatology Volume 128, Issue 4, Pages 867-870 (April 2008) DOI: 10.1038/sj.jid.5701078 Copyright © 2008 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Anonychia in five Pakistani families. (a–e) Pedigrees representing families N1–N5 with anonychia. Affected males and females are indicated by filled squares and circles, respectively. Double lines between figures are representative of consanguineous unions. DNA was obtained from numbered individuals in this study. (f and g) Clinical features of inherited anonychia in the fingernails and toenails. Journal of Investigative Dermatology 2008 128, 867-870DOI: (10.1038/sj.jid.5701078) Copyright © 2008 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 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). Journal of Investigative Dermatology 2008 128, 867-870DOI: (10.1038/sj.jid.5701078) Copyright © 2008 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 mRspo4 expression is restricted to the dermis. (a) mRspo3 and (b) mRspo4 are both expressed in the nail field mesenchyme at e14.5 by in situ hybridization. (c) mRspo4 is expressed in e14.5 dermis and adult whole skin and is not present in e14.5 epidermis, as detected by reverse transcription-PCR. D, dermis; E, epidermis; WS, whole skin. Journal of Investigative Dermatology 2008 128, 867-870DOI: (10.1038/sj.jid.5701078) Copyright © 2008 The Society for Investigative Dermatology, Inc Terms and Conditions