FBN1 contributing to familial congenital diaphragmatic hernia

American Journal of Medical Genetics. Part a
Tyler F BeckD A Scott

Abstract

Congenital diaphragmatic hernia (CDH) is a relatively common, life--threatening birth defect. We present a family with recurrent CDH--paraesophageal and central--for whom exome sequencing (ES) revealed a frameshift mutation (c.4969_4970insA, p.Ile1657Asnfs*30) in the fibrillin 1 gene (FBN1) that causes Marfan syndrome. A diagnosis of Marfan syndrome had not been considered previously in this family. However, a review of the literature demonstrated that FBN1 mutations have an unusual pattern of CDH in which paraesophageal hernias are particularly common. Subsequent clinical evaluations revealed evidence for ectopia lentis in affected family members supporting a clinical diagnosis of Marfan syndrome. Since only two other cases of familial CDH have been described in association with FBN1 mutations, we investigated an oligogenic hypothesis by examining ES data for deleterious sequence changes in other CDH-related genes. This search revealed putatively deleterious sequence changes in four other genes that have been shown to cause diaphragm defects in humans and/or mice--FREM1, DES, PAX3 and MET. It is unclear whether these changes, alone or in aggregate, are contributing to the development of CDH in this family. However, their indiv...Continue Reading

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Citations

Oct 5, 2015·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·P LaumonerieP Galinier
Jan 5, 2017·Cold Spring Harbor Molecular Case Studies·Diane B ZastrowMatthew T Wheeler
Mar 24, 2018·Genome Research·Sanchita BhattacharyaGarry P Nolan
Apr 5, 2018·Human Molecular Genetics·Valerie K JordanDaryl A Scott
Aug 5, 2017·Disease Models & Mechanisms·Gabrielle KardonWendy K Chung
Feb 23, 2020·Journal of Perinatology : Official Journal of the California Perinatal Association·Fiammetta PiersigilliVineet Bhandari
Aug 29, 2018·Gastroenterology Research and Practice·N InayetA Poullis
Feb 20, 2020·Nutrients·Fiammetta PiersigilliOlivier Danhaive
Oct 11, 2020·Clinical Dysmorphology·Angelika J DawsonMartin Zenker
Oct 9, 2021·European Journal of Human Genetics : EJHG·Yannick SchreinerNeysan Rafat
Dec 16, 2021·European Journal of Pediatric Surgery : Official Journal of Austrian Association of Pediatric Surgery ... [et Al] = Zeitschrift Für Kinderchirurgie·Charlotte BendixenWendy Kay Chung

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