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Molecular characteristics

A number of gene changes have been found to cause a CLCN4-related disorder. The specific gene change is recorded on the formal laboratory report for your family members.

Genetic changes  reported to date include deletions of the whole gene or sections of the gene, a genetic change that causes the gene not to be made into a protein (‘loss of function’ genetic changes), or changes in the ‘spelling’ of the gene (‘missense genetic changes’) that have been shown to affect how the gene functions.