title: A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.
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.
authors.affiliation: Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.affiliation: Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy.
authors.forename: Irene
authors.initials: I
authors.lastname: Bottillo
authors.affiliation: Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: D'Angelantonio
authors.affiliation: Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Morlino
authors.affiliation: Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy.
authors.forename: Carmelilia
authors.initials: C
authors.lastname: De Bernardo
authors.affiliation: Division of Obstetrics and Gynecology, Division of Pathology, San Camillo-Forlanini Hospital, Rome, Italy.
authors.forename: Giovanna
authors.initials: G
authors.lastname: Scassellati Sforzolini
authors.affiliation: Unit of Fetal and Neonatal Pathology, Division of Pathology, San Camillo-Forlanini Hospital, Rome, Italy.
authors.forename: Evelina
authors.initials: E
authors.lastname: Silvestri
authors.affiliation: Division of Medical Genetics, Department of Molecular Medicine, Sapienza University, Rome, Italy.
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
keywords: AFD1; Acrofacial dysostosis; Diaphragmatic hernia; Nager syndrome; SF3B4