Mutation analysis for GJB2 and LOR genes in two patients with Vohwinkel syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 203-206, 2013.
Article
in Chinese
| WPRIM
| ID: wpr-237281
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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Abnormalities, Multiple
/
Hand Deformities, Congenital
/
Sequence Analysis, DNA
/
Keratoderma, Palmoplantar
/
Connexins
/
Mutation, Missense
/
Connexin 26
/
Genetics
/
Hearing Loss, Sensorineural
Limits:
Adult
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2013
Type:
Article
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