X-LINKED FEVR A MUTATION OF Norrie Disease
& Genetic Testing
Information on the inheritance
Autosomal dominant (AD) is the most
common form of inheritance of FEVR. The frizzled-4 gene was recently discovered
in 11q chromosome as one of the genes that cause AD FEVR. Another locus for AD
disease is in 11p, discount the gene is still unknown. It is quite possible that few
other unknown yet genes might cause AD FEVR.
The second most common form of transmission is x-linked.
Patients with the x-linked form have quite often mutations in the Norrie disease
gene. It is quite possible also that this type of FEVR could also be caused by
other genes as well.
A third type of inheritance is Autosomal recessive, sick it is the least common
and genes are still unknown.
X-linked FEVR in most cases are caused a mutation in the gene causing
Norrie Disease. A genetic test is available in these cases. To learn
more about Norrie Disease & Genetic Testing click below.
"Mutations in the
NDP gene are associated with a spectrum of retinal findings
ranging from Norrie disease (ND) to X-linked familial exudative
vitreoretinopathy (FEVR), help including some cases of persistent hyperplastic
primary vitreous (PHPV), Coats disease, and advanced retinopathy of prematurity
(ROP). " genetests.org
Frequently Asked Questions
1. Are all cases X-Linked FEVR caused by a mutation of the Norrie
We don’t know if all X-linked FEVR is actually Norrie. A number of cases
diagnosed as such have been shown to carry ND mutations and I don’t know, and
don’t believe, that anyone has reported an X-linked case without a Norrie
mutation – probably most are Norrie, at least a couple of cases shows X-linked
transmission and no Norrie mutation.