Mutation analysis for GJB2 and LOR genes in two patients with Vohwinkel syndrome / 中华医学遗传学杂志

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>