Autosomal Recessive (AR) FEVR

 

Information on the inheritance of FEVR.

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, 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 tranmsmission 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, it is the least common and genes are still unknown.


: Clin Genet 1998 Oct;54(4):315-20 Related Articles, Links

Autosomal recessive familial exudative vitreoretinopathy: evidence for genetic heterogeneity.

de Crecchio G, Simonelli F, Nunziata G, Mazzeo S, Greco GM, Rinaldi E, Ventruto V, Ciccodicola A, Miano MG, Testa F, Curci A, D’Urso M, Rinaldi MM, Cavaliere ML, Castelluccio P.

Eye Clinic, University of Naples, Italy.

Two unrelated families with familial exudative vitreoretinopathy (FEVR) show apparent autosomal recessive inheritance rather than the previously reported autosomal dominant or X-linked recessive mode of inheritance. Compared with the other modes of inheritance, the inherited clinical features here include earlier onset (at birth) and a more severe progressive course.

PMID: 9831343 [PubMed – indexed for MEDLINE]

 

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Am J Med Genet 1997 Mar 17;69(2):217-8 Related Articles, Links

Familial exudative vitreoretinopathy: further evidence for genetic heterogeneity.

Shastry BS, Trese MT.

Publication Types:
  • Letter


PMID: 9056564 [PubMed – indexed for MEDLINE]

 

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