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Rodriguez syndrome with SF3B4 mutation: A severe form of Nager syndrome?
Author(s) -
McPherson Elizabeth,
Zaleski Christina,
Ye Zhan,
Lin Simon
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36555
Subject(s) - dysostosis , medicine , pectoral girdle , mutation , agenesis , dermatology , genetics , congenital disease , biology , anatomy , gene
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. © 2014 Wiley Periodicals, Inc.