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[PMID]: | 24962725 |
[Au] Autor: | Zhou F; Fu H; Liu L; Cui Y; Zhang Z; Chang R; Yue Z; Yang S; Zhang X |
[Ad] Endereço: | Institute of Dermatology and Department of Dermatology at No. 1 Hospital, Anhui Medical University, Hefei, Anhui, China; Department of Dermatology and Venereology, Anhui Medical University, Hefei, Anhui, China; State Key Laboratory of Dermatology Incubation, Ministry of Science and Technology, Hefei, Anhui, China. |
[Ti] Título: | No exonic mutations at GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR genes responsible for a Chinese patient affected by progressive symmetric erythrokeratodermia with pseudoainhum. |
[So] Source: | Int J Dermatol;53(9):1111-3, 2014 Sep. | [Is] ISSN: | 1365-4632 |
[Cp] País de publicação: | England |
[La] Idioma: | eng |
[Ab] Resumo: | OBJECTIVE: Progressive symmetric erythrokeratodermia (PSEK) is characterized by symmetric and growing erythematous hyperkeratotic patches over the body shortly after birth, particularly trunk and limbs, the buttocks, and the face, sometimes together with palmoplantar keratoderma (PPK). The GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR gene mutation might contribute to PSEK manifestation. This study aimed to identify sequence alteration of these genes in a Chinese PSEK patient with pseudoainhum. METHODS: Genomic DNA was purified from the patient's peripheral blood. Mutation analysis of target genes was performed by direct sequencing using ABI 3730 sequencer RESULTS: No exonic mutations was identified in the aforementioned genes. CONCLUSIONS: The result underlines the genetic heterogeneity of PSEK and other related erythrokeratodermas. |
[Mh] Termos MeSH primário: |
Ainhum/genética Constrição Patológica/genética Eritroceratodermia Variável/genética
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[Mh] Termos MeSH secundário: |
Adolescente Antígenos Ly/genética Grupo com Ancestrais do Continente Asiático/genética China Conexina 26 Conexina 30 Conexinas/genética Genes pX/genética Seres Humanos Masculino Mutação Análise de Sequência de DNA Ativador de Plasminogênio Tipo Uroquinase/genética
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[Pt] Tipo de publicação: | CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T |
[Nm] Nome de substância:
| 0 (Antigens, Ly); 0 (Connexin 30); 0 (Connexins); 0 (DFNA3 protein, human); 0 (GJB6 protein, human); 0 (SLURP1 protein, human); 127120-53-0 (Connexin 26); 136362-16-8 (GJB3 protein, human); 147652-21-9 (connexin 30.3); EC 3.4.21.73 (Urokinase-Type Plasminogen Activator) |
[Em] Mês de entrada: | 1507 |
[Cu] Atualização por classe: | 171116 |
[Lr] Data última revisão:
| 171116 |
[Sb] Subgrupo de revista: | IM |
[Da] Data de entrada para processamento: | 140626 |
[St] Status: | MEDLINE |
[do] DOI: | 10.1111/ijd.12494 |
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