| Autor: |
van Steensel, M.A.M., Oranje, A.P., van der Schroeff, J.G., Wagner, A., van Geel, M. |
| Zdroj: |
American Journal of Medical Genetics. Part A; April 2009, Vol. 149 Issue: 4 p657-661, 5p |
| Abstrakt: |
Progressive symmetric erythrokeratoderma of Gottron (PSEK) is commonly distinguished from erythrokeratodermia variabilis Mendes da Costa (EKV). However, conclusive proof that the disorders are identical is still lacking. We performed mutation analysis and microsatellite haplotyping in two independently referred patients with PSEK and three patients from a previously published family with EKV. All patients had the same mutation in the GJB4gene causing the amino acid substitution p.Gly12Asp (G12D). Haplotype analysis showed that all five patients had the same allelic haplotype over 2 Mb covering the disease locus. Apparently, the same GJB4mutation may cause either an EKV or a PSEK phenotype. A single ancestral founder might have introduced EKV in the Netherlands. © 2009 Wiley‐Liss, Inc. |
| Databáze: |
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