Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders (CROSBI ID 202131)
Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija
Podaci o odgovornosti
Travaglini, L. ; Brancati, F. ; Silhavy, J. ; Iannicelli, M. ; Nickerson, E. ; Elkhartoufi, N. ; Scott, E. ; Spencer, E. ; Gabriel, S. ; Thomas, S. ; Ben-Zeev, B. ; Bertini, E. ; Boltshauser, E. ; Chaouch, M. ; Cilio, M.R. ; de Jong, M.M. ; Kayserili, H. ; Ogur, G. ; Poretti, A. ; Signorini, S. ; Uziel, G. ; Zaki, M.S. ; ... ; Mejaški Bošnjak, Vlatka ; ... ; Johnson, C. ; Attié-Bitach, T ; Gleeson, J.G. ; Valente ; E.M.
engleski
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain-hindbrain malformation known as the 'molar tooth sign'. To date, 19 causative genes have been identified, all coding for proteins of the primary cilium. There is clinical and genetic overlap with other ciliopathies, in particular with Meckel syndrome (MKS), that is allelic to JSRD at nine distinct loci. We previously identified the INPP5E gene as causative of JSRD in seven families linked to the JBTS1 locus, yet the phenotypic spectrum and prevalence of INPP5E mutations in JSRD and MKS remain largely unknown. To address this issue, we performed INPP5E mutation analysis in 483 probands, including 408 JSRD patients representative of all clinical subgroups and 75 MKS fetuses. We identified 12 different mutations in 17 probands from 11 JSRD families, with an overall 2.7% mutation frequency among JSRD. The most common clinical presentation among mutated families (7/11, 64%) was Joubert syndrome with ocular involvement (either progressive retinopathy and/or colobomas), while the remaining cases had pure JS. Kidney, liver and skeletal involvement were not observed. None of the MKS fetuses carried INPP5E mutations, indicating that the two ciliopathies are not allelic at this locus.
INPP5E mutation; Joubert syndrome
International JSRD Study Group.
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
nije evidentirano
Podaci o izdanju
21 (10)
2013.
1074-1078
objavljeno
1018-4813
10.1038/ejhg.2012.305
Povezanost rada
Kliničke medicinske znanosti