A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.

Nager syndrome, or acrofacial dysostosis type 1 (AFD1), is a rare multiple malformation syndrome characterized by hypoplasia of first and second branchial arches derivatives and appendicular anomalies with variable involvement of the radial/axial ray. In 2012, AFD1 has been associated with dominant mutations in SF3B4. We report a 22-week-old fetus with AFD1 associated with diaphragmatic hernia due to a previously unreported SF3B4 mutation (c.35-2A>G). Defective diaphragmatic development is a rare manifestation in AFD1 as it is described in only 2 previous cases, with molecular confirmation in 1 of them. Our molecular finding adds a novel pathogenic splicing variant to the SF3B4 mutational spectrum and contributes to defining its prenatal/fetal phenotype.
AuthorsMarco Castori, Irene Bottillo, Daniela D'Angelantonio, Silvia Morlino, Carmelilia De Bernardo, Giovanna Scassellati Sforzolini, Evelina Silvestri, Paola Grammatico
JournalMolecular syndromology (Mol Syndromol) Vol. 5 Issue 5 Pg. 241-4 (Aug 2014) ISSN: 1661-8769 [Print] Switzerland
PMID25337072 (Publication Type: Journal Article)

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