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Enhancing the lives and outcomes
of Canadian individuals and families
affected by Barth syndrome."

Female Carriers

Inheritance

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?

Dr. Cynthia James and Rebecca McClellan of the Johns Hopkins School of Medicine, Baltimore, Maryland are doing a study concerning how Barth syndrome carrier women navigate the family, reproductive, and psychological implications of being a carrier. Please consider the attached information and contact Dr. James or Rebecca McClellan directly if you decide to help.

Are you a Barth syndrome carrier? 

 

 

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