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Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene

Research output: Contribution to journalArticle

Melita D. Irving, Boyan I. Dimitrov, Marja Wessels, Muriel Holder-Espinasse, David Chitayat, Michael A. Simpson

Original languageEnglish
Pages (from-to)3133-3137
Number of pages5
JournalAmerican Journal of Medical Genetics. Part A
Issue number12
Early online date19 Sep 2016
Publication statusPublished - 1 Dec 2016

King's Authors


Acrofacial dysostosis syndrome of Rodriguez is characterized by severe mandibular underdevelopment, upper limb phocomelia with absent fingers, absent fibulae, cleft palate, microtia, and abnormal pulmonary function. First reported in three siblings it was assumed to be an autosomal recessive condition. However, subsequent publication reported a further five simplex occurrences and a living patient with a heterozygous mutation in the SF3B4 gene. Exome sequencing was performed on four fetuses with this disorder, including one of the originally described affected siblings. We identified two heterozygous frameshift mutations in the SF3B4 gene in three of the four fetuses investigated. The observed mutation was apparently de novo in one fetus for whom parental DNA was available. Thus, Acrofacial dysostosis syndrome of Rodriguez is an autosomal dominant condition and the recurrences identified in the initial report were likely due to gonadal mosaicism. © 2016 Wiley Periodicals, Inc.

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