Kniest dysplasia due to mutation of COL2A1 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 323-326, 2015.
Article
en Zh
| WPRIM
| ID: wpr-239479
Biblioteca responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutation of COL2A1 gene in two children suspected for Kniest dysplasia.</p><p><b>METHODS</b>The 54 exons and splicing regions of the COL2A1 gene were amplified with PCR and the product was subjected to direct sequencing.</p><p><b>RESULTS</b>A missense mutation (c.905C>T, p.Ala302Val) was found in the coding region of the COL2A1 gene, which has been previously reported in abroad. The patients appeared to have short trunk dwarfism, enlarged joints and midface hypoplasia.</p><p><b>CONCLUSION</b>The probands are the first cases of Kniest dysplasia described in China, and so was the p.Ala302Val mutation.</p>
Texto completo:
1
Base de datos:
WPRIM
Asunto principal:
Osteocondrodisplasias
/
Anomalías Congénitas
/
Datos de Secuencia Molecular
/
Secuencia de Bases
/
China
/
Empalme del ARN
/
Exones
/
Sistemas de Lectura Abierta
/
Fisura del Paladar
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Enfermedades del Colágeno
Límite:
Child, preschool
/
Humans
/
Male
País/Región como asunto:
Asia
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2015
Tipo del documento:
Article