A novel mutation of cartilage oligomeric matrix protein gene underlies multiple epiphyseal dysplasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 322-325, 2013.
Artigo
em Chinês
| WPRIM
| ID: wpr-237257
ABSTRACT
<p><b>OBJECTIVE</b>To perform mutation analysis for a female with multiple epiphyseal dysplasia (MED) and provide pre-symptomatic and prenatal diagnosis.</p><p><b>METHODS</b>Mutation screening of cartilage oligomeric matrix protein (COMP) gene was carried out through targeted next-generation DNA sequencing and Sanger sequencing.</p><p><b>RESULTS</b>A novel c.956 A>T resulting in substitution of Aspartic acid 319 for Valine (p.Asp319Val) has been identified in exon 9 of the COMP gene in the patient. As predicted by a SIFT software, above mutation can cause damage to the structure of COMP protein.</p><p><b>CONCLUSION</b>A novel c.956 A>T substitution mutation has been identified in a patient featuring MED.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Osteocondrodisplasias
/
Sequência de Bases
/
Glicoproteínas
/
Éxons
/
Proteínas da Matriz Extracelular
/
Alinhamento de Sequência
/
Polimorfismo de Nucleotídeo Único
/
Diagnóstico
/
Proteína de Matriz Oligomérica de Cartilagem
/
Proteínas Matrilinas
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2013
Tipo de documento:
Artigo
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