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of Canadian individuals and families
affected by Barth syndrome."

Female Carriers


Barth syndrome (BTHS) is an X-linked genetic condition, usually transmitted from mother to son (although there is a relatively high incidence of new mutations in Barth syndrome and one confirmed case report of a female Barth syndrome patient). A mother who is a carrier of a Barth syndrome mutation (the gene is named tafazzin — also called TAZ or G4.5) shows no signs or symptoms of this disorder herself, probably due to skewed X-chromosome inactivation.


There is a 50% chance that a boy born to a female carrier will have Barth syndrome; whereas, girls born to a carrier have a 50% risk of being carriers themselves. All daughters of a male with Barth syndrome will be carriers; however, no sons will be affected. Because there are proven non-carrier mothers, all mothers of Barth syndrome children should be tested in order to define the genetic risk in each family.


Any male child related through the female line to a Barth syndrome individual should be tested for the disorder, as there can be great variation in phenotype even among affected siblings.


Female carriers of Barth syndrome are healthy. This has been associated with X chromosome inactivation [Orstavik et al. (1998)]2, using PCR of a polymorphic CAG repeat in the first exon of the androgen receptor gene (AR; 313700). Although it is theoretically possible for a female who carries a mutation in the Barth gene to have clinical signs of the disorder, as yet there has been no proven affected female with a normal 46,XX female karyotype.


Are you a Barth Syndrome Carrier?


For a video discussing "Genetics and Carriers in Barth syndrome", please see the BSF 9th International Scientific, Medical & Family Conference, July 20, 2018 ~ Clearwater Beach, FL


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