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Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?
Am J Med Genet A. 2014 Jul; 164A(7):1841-5.AJ

Abstract

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.

Authors+Show Affiliations

Department of Medical Genetics Services, Marshfield Clinic, Marshfield, Wisconsin.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

24715698

Citation

McPherson, Elizabeth, et al. "Rodriguez Syndrome With SF3B4 Mutation: a Severe Form of Nager Syndrome?" American Journal of Medical Genetics. Part A, vol. 164A, no. 7, 2014, pp. 1841-5.
McPherson E, Zaleski C, Ye Z, et al. Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome? Am J Med Genet A. 2014;164A(7):1841-5.
McPherson, E., Zaleski, C., Ye, Z., & Lin, S. (2014). Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome? American Journal of Medical Genetics. Part A, 164A(7), 1841-5. https://doi.org/10.1002/ajmg.a.36555
McPherson E, et al. Rodriguez Syndrome With SF3B4 Mutation: a Severe Form of Nager Syndrome. Am J Med Genet A. 2014;164A(7):1841-5. PubMed PMID: 24715698.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome? AU - McPherson,Elizabeth, AU - Zaleski,Christina, AU - Ye,Zhan, AU - Lin,Simon, Y1 - 2014/04/08/ PY - 2013/08/15/received PY - 2013/12/03/accepted PY - 2014/4/10/entrez PY - 2014/4/10/pubmed PY - 2015/8/19/medline KW - Nager syndrome KW - SF3B4 mutation SP - 1841 EP - 5 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 164A IS - 7 N2 - 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. SN - 1552-4833 UR - https://www.unboundmedicine.com/medline/citation/24715698/Rodriguez_syndrome_with_SF3B4_mutation:_a_severe_form_of_Nager_syndrome L2 - https://doi.org/10.1002/ajmg.a.36555 DB - PRIME DP - Unbound Medicine ER -