Genetic Considerations

Disorders in CFTR are inherited in an autosomal recessive pattern of inheritance. Over 1000 different mutations have been reported. Unaffected parents of an affected child are obligate carriers (heterozygotes). Disease carriers are asymptomatic, but rarely, a parent may be found to have a mild case after the diagnosis of the child is made. With two carrier parents, each sibling of the proband has a 25% chance of being affected. A symptomatic sibling has a two-thirds chance of being a carrier. Males with CBAVD may produce offspring via assisted reproductive technologies. The risk to these children would depend on the father's genotype.

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