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

Marco Castori | Zendy; Irene Bottillo | Zendy; Daniela D’Angelantonio | Zendy; Silvia Morlino | Zendy; Carmelilia De Bernardo | Zendy; Giovanna Scassellati Sforzolini | Zendy; Evelina Silvestri | Zendy; Paola Grammatico | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel <b><i>SF3B4</i></b> Mutation

Author(s) -

Marco Castori,

Irene Bottillo,

Daniela D’Angelantonio,

Silvia Morlino,

Carmelilia De Bernardo,

Giovanna Scassellati Sforzolini,

Evelina Silvestri,

Paola Grammatico

Publication year - 2014

Publication title -

molecular syndromology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.609

H-Index - 36

eISSN - 1661-8777

pISSN - 1661-8769

DOI - 10.1159/000365769

Subject(s) - congenital diaphragmatic hernia , medicine , fetus , hypoplasia , phenotype , mutation , diaphragmatic hernia , diaphragmatic breathing , anatomy , hernia , genetics , pathology , biology , gene , surgery , pregnancy , alternative medicine

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.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research