Mutations in Gap Junction Beta 2 (GJB2) (the gene encoding the protein Connexin 26) have been found to be a major cause of non-syndromic sensorineural recessive deafness.
We show that in the Czech Republic the Delta(GJB6-D13S1830) is not the second most common causal factor in deafness patients heterozygous for a single GJB2 mutation, and that Delta(GJB6-D13S1830) is very rare in central Europe compared to reports from Spain, France and Israel.
Our findings revealed a unique phenotype with highly penetrant deafness, posterior embryotoxon, and congenital heart defects but with variable expressivity in a large kindred, which demonstrates that mutation in JAG1 can cause hearing loss.
Observational case report.The entire coding sequence of the OPA1 gene was directly sequenced in the case of a patient suffering from optic atrophy associated with moderate deafness.
Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance.
The results provide further support to the notion that PTPN11 mutations are responsible for the development of Noonan syndrome in a substantial fraction of patients and that relatively infrequent features of Noonan syndrome, such as sensory deafness and bleeding diathesis, can also result from mutations of PTPN11.
We show that in the Czech Republic the Delta(GJB6-D13S1830) is not the second most common causal factor in deafness patients heterozygous for a single GJB2 mutation, and that Delta(GJB6-D13S1830) is very rare in central Europe compared to reports from Spain, France and Israel.