Gitelman syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
25% (1 in 4) chance to be affected
50% (1 in 2) chance to be an unaffected carrier like each parent
25% chance to be unaffected and not be a carrier
Last updated: 7/11/2016
Can a child be affected if one parent is affected and the other parent is not affected and not a carrier?
Gitelman syndrome is inherited in an autosomal recessive manner, which means that affected individuals have mutations in both copies of the disease-causing gene. In almost all cases, one mutated copy is inherited from each parent, who are referred to as carriers. Affected individuals have 2 mutated copies of the disease-causing gene. When an affected individual and an unaffected, non-carrier (with two normal copies) have children, each child has a 100% chance of being a carrier for the condition (i.e. each child will have one mutated copy and one normal copy of the gene). This is because the affected parent can only pass on a mutated copy of the gene, and the unaffected, non-carrier parent can only pass on a normal copy of the gene. It is technically possible (although extremely unlikely) for a child to have an autosomal recessive condition due to inheriting one mutation from a parent and having another, new mutation (called a de novo mutation) that occurred for the first time in the affected child.
Last updated: 11/25/2011
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please