Mutations in R-Spondin 4 (RSPO4) Underlie Inherited Anonychia
| Autor: | Hisham Bazzi, Yoshiyuki Ishii, David P. Kelsell, Alison G. Barber, Katherine A. Fantauzzo, Jeong Kyo Yoon, Diana C. Blaydon, Angela M. Christiano, Muhammad Wajid, Ju-Suk Nam |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Nails Malformed Dermatology In situ hybridization Biology medicine.disease_cause Biochemistry 03 medical and health sciences Exon 0302 clinical medicine Start codon medicine Anonychia Humans Missense mutation Molecular Biology Gene 030304 developmental biology Genetics 0303 health sciences Mutation Splice site mutation Homozygote Dermis Exons Cell Biology medicine.disease Introns Pedigree 030220 oncology & carcinogenesis Female RNA Splice Sites Thrombospondins |
| Zdroj: | Journal of Investigative Dermatology. 128:867-870 |
| ISSN: | 0022-202X |
| DOI: | 10.1038/sj.jid.5701078 |
| Popis: | Recently, we reported that mutations in the R-spondin 4 (RSPO4) gene underlie inherited anonychia/hyponychia. Here, we studied five consanguineous Pakistani families with recessive inheritance of a combination of anonychia and hyponychia. Homozygous mutations were identified in the RSPO4 gene in all five families. Three families had a splice site mutation at the exon 2-intron 2 boundary. One family had a 26 bp deletion encompassing the start codon, and the final family had a missense mutation changing the initiating methionine to isoleucine. We demonstrated by in situ hybridization that Rspo4 is exclusively expressed in the mesenchyme underlying the digit tip epithelium in the mouse at embryonic day 14.5 (e14.5). These findings expand our understanding of the role of RSPO4 in nail development and disease. |
| Databáze: | OpenAIRE |
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