Heterozygous TP63 mutation in a Chinese patient with ectrodactyly-ectodermal dysplasia clefting syndrome without clefting / 中华口腔医学杂志
Chinese Journal of Stomatology
; (12): 767-769, 2010.
Article
en Zh
| WPRIM
| ID: wpr-243094
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To determine if alteration in TP63 is responsible for a Chinese patient with ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome, but without cleft palate/lip.</p><p><b>METHODS</b>Screening of TP63 gene was performed in the patient with EEC syndrome and his family members using PCR-single strand conformational polymorphism (SSCP) analysis, then performed by direct sequencing of the coding region.</p><p><b>RESULTS</b>A C > T substitution at nucleotide position 838 in exon 7 was detected in the patient, and the change predicted a heterozygous missense mutation, Arg280Cys. His parents showed the wild type.</p><p><b>CONCLUSIONS</b>The results indicate that the de novo mutation Arg280Cys of the TP63 gene observed in the patient maybe contribute to his EEC syndrome.</p>
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Factores de Transcripción
/
Displasia Ectodérmica
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Exones
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Labio Leporino
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Fisura del Paladar
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Mutación Missense
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Proteínas Supresoras de Tumor
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Pueblo Asiatico
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Genética
/
Genotipo
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Stomatology
Año:
2010
Tipo del documento:
Article