Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?
We report on the findings of a novel heterozygous de novo SF3B4 mutation in a long-surviving patient with clinical features of Rodriguez syndrome including severe acrofacial dysostosis, phocomelia with pre- and post-axial limb defects, fibular agenesis, rib, and shoulder girdle anomalies. Since SF3B4 mutations have been recently associated with Nager syndrome, this suggests that at least some cases of Rodriguez syndrome are either allelic to or represent unusually severe manifestations of Nager syndrome. Although clinical overlap is obvious, this is somewhat surprising given the presumed autosomal recessive inheritance of Rodriguez syndrome. Investigation of other Rodriguez syndrome patients is needed to clarify the genetic mechanism and possible heterogeneity in patients with clinical features of Rodriguez syndrome.
Department of Medical Genetics Services, Marshfield Clinic, Marshfield, Wisconsin.
Elizabeth
E
McPherson
Christina
C
Zaleski
Zhan
Z
Ye
Simon
S
Lin
D000328:Adult; D003937:Diagnosis, Differential; D019066:Facies; D005260:Female; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007223:Infant; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D011247:Pregnancy; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins / Q000235:genetics*; D011859:Radiography; D016216:Ultrasonography, Prenatal
D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins; C486347:SF3B4 protein, human
Nager syndrome; SF3B4 mutation