Identification of a novel mutation in solute carrier family 29, member 3 in a Chinese patient with H syndrome / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 1336-1339, 2015.
Artigo
em Inglês
| WPRIM
| ID: wpr-231778
ABSTRACT
<p><b>BACKGROUND</b>H syndrome (OMIM 612391) is a recently described autosomal recessive genodermatosis characterized by indurated hyperpigmented and hypertrichotic skin, as well as other systemic manifestations. Most of the cases occurred in the Middle East areas or nearby countries such as Spain or India. The syndrome is caused by mutations in solute carrier family 29, member 3 (SLC29A3), the gene encoding equilibrative nucleoside transporter 3. The aim of this study was to identify pathogenic SLC29A3 mutations in a Chinese patient clinically diagnosed with H syndrome.</p><p><b>METHODS</b>Peripheral blood samples were collected from the patient and his parents. Genomic DNA was isolated by the standard method. All six SLC29A3 exons and their flanking intronic sequences were polymerase chain reaction (PCR)-amplified and the PCR products were subjected to direct sequencing.</p><p><b>RESULTS</b>The patient, an 18-year-old man born to a nonconsanguineous Chinese couple, had more extensive cutaneous lesions, involving both buttocks and knee. In his genomic DNA, we identified a novel homozygous insertion-deletion, c. 1269_1270delinsA, in SLC29A3. Both of his parents were carriers of the mutation.</p><p><b>CONCLUSIONS</b>We have identified a pathogenic mutation in a Chinese patient with H syndrome.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Anormalidades da Pele
/
Anormalidades Múltiplas
/
Predisposição Genética para Doença
/
Proteínas de Transporte de Nucleosídeos
/
Povo Asiático
/
Diagnóstico
/
Genética
/
Mutação
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adolescente
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Chinese Medical Journal
Ano de publicação:
2015
Tipo de documento:
Artigo
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