Pattern of Inheritance
The study conducted at NIH reported the following –
VEXAS does not result from numerical chromosomal abnormalities. This can be justified as the karyotype analysis of these patients did not reveal any chromosomal variations.
None of the affected men had affected relatives.
From these observations, researchers at NIH predict that VEXAS in not an inherited condition; the mutations causing the abnormalities should be somatic in nature.
The researchers also hypothesize that since these variants have a somatic origin, germline mutations affecting p.Met 41 should be lethal and non – compatible with life.
Since the gene for UBA 1 is present on the X chromosome, researchers also hypothesize that extra allele in women confers a protective function. At the time of writing, a case of VEXAS has not been found in women. (1)