Study the Mutation Screening of GJB3,GJB2,mtDNA,SLC26A4 Gene in Hainan Population with Non-syndromic Hearing Impairment / 现代检验医学杂志

Objective To investigate the mutation screening of the GJB3,GJB2,mtDNA 1555 A>G and SLC26A4 gene in Hainan Pronive population with non-syndromic hearing impairment.Methods PCR were performed with one pair of primer in the coding sequence of GJB3,GJB2,mtDNA 1555 A>G and SLC26A4 gene.Bidirectional sequencing of PCR products was subsequently applied in 429 patients with hearing loss.Results 55 patients gene mutation of 429 patients were found. The point mutation in mtDNA was found in 5 patients (1.1 7%).1 5 5 5 A>G mutation of mtDNA was found in 4 patients. 1494 C>T mutation of mtDNA was found in one patients.GJB2 gene mutation was found in 25 patients (5.83%).235 del C mutation of GJB2 gene was found in 9 patients.235 del C/GJB2 299 del AT mutation was found in two patients.235 del C mutation was found in 10 patients.176 del 16 mutation was found in 4 patients.SLC26A4 mutation was found in 22 patients (5.13%).IVS7-2 A>G mutation of SLC26A4 was found in 4 patients.2168 A>G mutation of SLC26A4 was found in one patient.IVS7-2 A>G mutation was found in 12 patients.2168 A>G mutation was found in 5 patients.538 C>T mutation of GJB3 gene was found in 3 patient.IVS7-2A>G mutation and 2168 A>G muation of SLC26A4 gene was found in 4 of 22 EVA patients.Conclusion GJB2 gene and SLC26A4 gene have revealed responsible genes for Hainan deafness patients.

Erythrokeratodermia Variabilis Showing Gradual Disappearance of Erythema / 대한피부과학회지

Erythrokeratodermia variabilis is an autosomal-dominant inherited disease associated with a mutation in gap junction beta (GJB) 3 and 4. It shows two characteristic features: migratory and irregularly shaped erythematous lesions usually accompanied by a burning sensation and fixed, symmetrically located hyperkeratotic plaques. A 6-year-old boy had developed erythematous scaly patches with a geographic pattern on the entire body at age 1, and the lesions had migrated with an irregular pattern. Accompanying hyperkeratotic plaque developed on the trunk and both legs when he was 4 years old. As he grew older, the erythematous patches progressively disappeared and the hyperkeratotic plaque dominantly remained. His family history was unidentifiable because he was adopted at birth. Pathologic findings showed hyperkeratosis and superficial perivascular inflammation. Based on the clinical and pathologic features, we diagnosed erythrokeratodermia variabilis in this patient. Herein, we report a case of erythrokeratodermia variabilis showing gradual disappearance of erythema.