Mutation analysis for GJB2 and LOR genes in two patients with Vohwinkel syndrome / 中华医学遗传学杂志
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; (6): 203-206, 2013.
Article
de Zh
| WPRIM
| ID: wpr-237281
Bibliothèque responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutations of gap junction protein beta 2 (GJB2) and loricrin (LOR) genes in two patients with Vohwinkel syndrome.</p><p><b>METHODS</b>Polymerase chain reaction and DNA sequencing were used for detecting potential mutations in the GJB2 and LOR genes. Parents of one patient and 50 healthy individuals were used as controls.</p><p><b>RESULTS</b>A novel homozygous missense mutation (c.A796G) of LOR gene was detected in one patient. The same mutation was not found in the other patient, their relatives and the 50 healthy controls.</p><p><b>CONCLUSION</b>A missence mutation of LOR gene was detected in a patient with Vohwinkel syndrome.</p>
Texte intégral:
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Indice:
WPRIM
Sujet Principal:
Anatomopathologie
/
Malformations multiples
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Anomalies morphologiques congénitales de la main
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Analyse de séquence d'ADN
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Kératose palmoplantaire
/
Connexines
/
Mutation faux-sens
/
Connexine-26
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Génétique
/
Surdité neurosensorielle
Limites du sujet:
Adult
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Child, preschool
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Female
/
Humans
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Male
langue:
Zh
Texte intégral:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Année:
2013
Type:
Article