Please use this identifier to cite or link to this item:
https://observatorio.fm.usp.br/handle/OPI/8566
Title: | Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause |
Authors: | PETIT, F.; ESCANDE, F.; JOURDAIN, A. S.; PORCHET, N.; AMIEL, J.; DORAY, B.; DELRUE, M. A.; FLORI, E.; KIM, C. A.; MARLIN, S.; ROBERTSON, S. P.; MANOUVRIER-HANU, S.; HOLDER-ESPINASSE, M. |
Citation: | CLINICAL GENETICS, v.86, n.3, p.246-251, 2014 |
Abstract: | Nager syndrome belongs to the group of acrofacial dysostosis, which are characterized by the association of craniofacial and limb malformations. Recently, exome sequencing studies identified the SF3B4 gene as the cause of this condition in most patients. SF3B4 encodes a highly conserved protein implicated in mRNA splicing and bone morphogenic protein (BMP) signaling. We performed SF3B4 sequencing in 14 families (18 patients) whose features were suggestive of Nager syndrome and found nine mutations predicted to result in loss-of-function. SF3B4 is the major gene responsible for autosomal dominant Nager syndrome. All mutations reported predict null alleles, therefore precluding genotype-phenotype correlations. Most mutation-negative patients were phenotypically indistinguishable from patients with mutations, suggesting genetic heterogeneity. |
Appears in Collections: | Artigos e Materiais de Revistas Científicas - FM/MPE Artigos e Materiais de Revistas Científicas - HC/ICr Artigos e Materiais de Revistas Científicas - LIM/36 |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
art_PETIT_Nager_syndrome_confirmation_of_SF3B4_haploinsufficiency_as_the_2014.PDF Restricted Access | publishedVersion (English) | 673 kB | Adobe PDF | View/Open Request a copy |
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.