title: Familial exudative vitreoretinopathy caused by a homozygous mutation in TSPAN12 in a cystic fibrosis infant.
abstract: Familial exudative vitreoretinopathy (FEVR) is a genetic disease affecting the vascularization of the peripheral retina. The clinical manifestations are very heterogeneous, ranging from mildly affected patients, who could present no visual defects, to severe conditions which can also cause complete blindness at birth or in the first decade. FEVR can be inherited in all the three genetic forms: dominant, recessive and X-linked. To date, four genes have been associated with the condition: TSPAN12. NDP. FDZ4 and LRP5. Interestingly, mutations in TSPAN12 have been considered causative of both a dominant and recessive inheritance and a FEVR phenotype sensitive to the number of TSPAN12 mutations has been supposed. Here we describe a case of a female infant affected by cystic fibrosis and by a severe form of exudative vitreoretinopathy. In particular, we have detected the homozygous missense mutation c.668 T > C in TSPAN12. Neither of the heterozygous parents has ocular manifestations of the disease, suggesting a classic recessive mendelian pattern of inheritance.
authors.affiliation: Department of Biochemistry, Biophysics and General Pathology, Second University of Naples , Italy .
authors.forename: Marco
authors.initials: M
authors.lastname: Savarese
authors.forename: Elide
authors.initials: E
authors.lastname: Spinelli
authors.forename: Federico
authors.initials: F
authors.lastname: Gandolfo
authors.forename: Valentina
authors.initials: V
authors.lastname: Lemma
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Di Fruscio
authors.forename: Rita
authors.initials: R
authors.lastname: Padoan
authors.forename: Francesco
authors.initials: F
authors.lastname: Morescalchi
authors.forename: Massimo
authors.initials: M
authors.lastname: D'Agostino
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Savoldi
authors.forename: Francesco
authors.initials: F
authors.lastname: Semeraro
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Nigro
authors.forename: Stefano
authors.initials: S
authors.lastname: Bonatti
mesh_terms: D003241:Consanguinity; D003550:Cystic Fibrosis / Q000235:genetics*; D015785:Eye Diseases, Hereditary; D000080345:Familial Exudative Vitreoretinopathies; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007223:Infant; D020125:Mutation, Missense; D010375:Pedigree; D017354:Point Mutation; D012164:Retinal Diseases / Q000235:genetics; D059470:Tetraspanins / Q000235:genetics*
chemical_list: C545100:TSPAN12 protein, human; D059470:Tetraspanins
keywords: Cystic fibrosis; TSPAN12; familial exudative vitreoretinopathy (FEVR); retinal vascularization