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PCD is inherited via the autosomal recessive route, which means both parents pass a PCD gene to an affected child.
The chance that a child will be affected when both parents carry a PCD gene are 1:4. There is a 1:2 chance of their children being carriers and a 1:4 chance they will not inherit a PCD gene from either parent. In summary, any patient with PCD must have inherited a gene mutation from each parent, both of whom must be carriers, i.e. carry only one gene mutation, or have the condition themselves in which case they will also have two gene mutations.
In some communities, such as some Asian populations and some Caucasian communities, where intermarriage within the extended family is common the incidence of PCD may be significantly higher. This is because in any family carrying a genetic disorder there is a higher chance that the genes will be combined in a family and handed to their offspring.
This increase in incidence is typical of any recessive condition where intermarriage is common. It is becoming clear that prevalence “hot-spots” are occurring where PCD is more prevalent in the community because of a higher degree of related marriages.
Genetic counselling can be sought from any specialist genetic centre, where advice can be sought for future family planning.
There are a large number of gene mutations causing ciliary defects resulting in PCD. Only some of these genes have been identified and as yet there is no genetic screening or diagnostic facility, although research continues rapidly in this aspect of diagnostics for PCD.