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.

A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation / Castori, M; Bottillo, Irene; D'Angelantonio, Daniela; Morlino, S; De Bernardo, C; Scassellati Sforzolini, G; Silvestri, E; Grammatico, Paola. - In: MOLECULAR SYNDROMOLOGY. - ISSN 1661-8769. - STAMPA. - 5:5(2014), pp. 241-244. [10.1159/000365769]

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

BOTTILLO, IRENE;D'ANGELANTONIO, DANIELA;GRAMMATICO, Paola
2014

Abstract

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.
2014
Nager Syndrome; Congenital Diaphragmatic Hernia; SF3B4; Acrofacial dysostosis
01 Pubblicazione su rivista::01a Articolo in rivista
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation / Castori, M; Bottillo, Irene; D'Angelantonio, Daniela; Morlino, S; De Bernardo, C; Scassellati Sforzolini, G; Silvestri, E; Grammatico, Paola. - In: MOLECULAR SYNDROMOLOGY. - ISSN 1661-8769. - STAMPA. - 5:5(2014), pp. 241-244. [10.1159/000365769]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/617464
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