FBN1 contributing to familial congenital diaphragmatic hernia
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...
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Published in | American journal of medical genetics. Part A Vol. 167A; no. 4; pp. 831 - 836 |
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Main Authors | , , , , , , , , , , , , , , , |
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01.04.2015
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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 individual contribution is likely to be small compared to that of the frameshift mutation in FBN1. We conclude that ES can be used to identify both major and minor genetic factors that may contribute to CDH. These results also suggest that ES should be considered in the diagnostic evaluation of individuals and families with CDH, particularly when other diagnostic modalities have failed to reveal a molecular etiology. © 2015 Wiley Periodicals, Inc. |
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AbstractList | 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 individual contribution is likely to be small compared to that of the frameshift mutation in FBN1. We conclude that ES can be used to identify both major and minor genetic factors that may contribute to CDH. These results also suggest that ES should be considered in the diagnostic evaluation of individuals and families with CDH, particularly when other diagnostic modalities have failed to reveal a molecular etiology. copyright 2015 Wiley Periodicals, Inc. 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 individual contribution is likely to be small compared to that of the frameshift mutation in FBN1. We conclude that ES can be used to identify both major and minor genetic factors that may contribute to CDH. These results also suggest that ES should be considered in the diagnostic evaluation of individuals and families with CDH, particularly when other diagnostic modalities have failed to reveal a molecular etiology. 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 individual contribution is likely to be small compared to that of the frameshift mutation in FBN1 . We conclude that ES can be used to identify both major and minor genetic factors that may contribute to CDH. These results also suggest that ES should be considered in the diagnostic evaluation of individuals and families with CDH, particularly when other diagnostic modalities have failed to reveal a molecular etiology. 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 individual contribution is likely to be small compared to that of the frameshift mutation in FBN1. We conclude that ES can be used to identify both major and minor genetic factors that may contribute to CDH. These results also suggest that ES should be considered in the diagnostic evaluation of individuals and families with CDH, particularly when other diagnostic modalities have failed to reveal a molecular etiology. © 2015 Wiley Periodicals, Inc. 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 individual contribution is likely to be small compared to that of the frameshift mutation in FBN1 . We conclude that ES can be used to identify both major and minor genetic factors that may contribute to CDH. These results also suggest that ES should be considered in the diagnostic evaluation of individuals and families with CDH, particularly when other diagnostic modalities have failed to reveal a molecular etiology. © 2015 Wiley Periodicals, Inc. |
Author | Gibbs, Richard A. Li, Alexander H. Beck, Tyler F. Wiszniewski, Wojciech K. Reardon, Willie Muzny, Donna Scott, Daryl A. Jordan, Valerie K. Boerwinkle, Eric Hernandez-Garcia, Andres Jhangiani, Shalini N. Abo-Zahrah, Reem Lee, Brendan Lupski, James R. Campeau, Philippe M. Gambin, Tomasz |
AuthorAffiliation | 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 3 Human Genetics Center, University of Texas Health Science Center, Houston, Texas 2 Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 5 Department of Pediatrics, Baylor College of Medicine, Houston, Texas 6 Howard Hughes Medical Institute, Houston, Texas 4 Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas 7 Our Lady’s Hospital for Sick Children, Crumlin, Dublin, Ireland |
AuthorAffiliation_xml | – name: 4 Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, Texas – name: 6 Howard Hughes Medical Institute, Houston, Texas – name: 1 Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas – name: 5 Department of Pediatrics, Baylor College of Medicine, Houston, Texas – name: 2 Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas – name: 3 Human Genetics Center, University of Texas Health Science Center, Houston, Texas – name: 7 Our Lady’s Hospital for Sick Children, Crumlin, Dublin, Ireland |
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CitedBy_id | crossref_primary_10_1097_MCD_0000000000000351 crossref_primary_10_1007_s00383_016_3968_0 crossref_primary_10_1016_j_arcped_2015_08_006 crossref_primary_10_1055_s_0041_1740337 crossref_primary_10_1136_jmedgenet_2020_107317 crossref_primary_10_1002_pd_6099 crossref_primary_10_1007_s10142_022_00837_9 crossref_primary_10_1101_gr_223693_117 crossref_primary_10_3389_fped_2021_800915 crossref_primary_10_3390_nu12020469 crossref_primary_10_1016_j_jpeds_2022_03_023 crossref_primary_10_1093_hmg_ddy110 crossref_primary_10_1242_dmm_028365 crossref_primary_10_1038_s41372_020_0623_3 crossref_primary_10_1055_s_0043_1767731 crossref_primary_10_1186_s13052_024_01643_8 crossref_primary_10_1002_ajmg_a_63075 crossref_primary_10_1016_j_jpedsurg_2017_01_007 crossref_primary_10_1007_s13353_016_0376_z crossref_primary_10_1155_2018_4854701 crossref_primary_10_1038_s41431_021_00972_0 |
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Keywords | exome sequencing DES PAX3 congenital diaphragmatic hernia oligogenic inheritance MET Marfan syndrome FBN1 |
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Notes | ArticleID:AJMGA36960 ark:/67375/WNG-2NS27XPP-6 NIH/NIGMS - No. R25 GM056929-16 NIH/NICHD - No. R01 HD064667 istex:2F60C7FEBA4996E24264B11D92C670891BFE4BB3 United States National Human Genome Research Institute/National Heart Blood and Lung Institute - No. U54HG006542 ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 ObjectType-Article-1 ObjectType-Feature-2 Current affiliation of Philippe M. Campeau: Department of Pediatrics, University of Montreal, Montreal, QC, Canada. Current affiliation of Tyler F. Beck: NHGRI, National Institutes of Health, Bethesda, Maryland. |
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Snippet | Congenital diaphragmatic hernia (CDH) is a relatively common, life‐threatening birth defect. We present a family with recurrent CDH—paraesophageal and... Congenital diaphragmatic hernia (CDH) is a relatively common, life--threatening birth defect. We present a family with recurrent CDH--paraesophageal and... Congenital diaphragmatic hernia (CDH) is a relatively common, life-threatening birth defect. We present a family with recurrent CDH--paraesophageal and... Congenital diaphragmatic hernia (CDH) is a relatively common, life-threatening birth defect. We present a family with recurrent CDH-paraesophageal and... Congenital diaphragmatic hernia (CDH) is a relatively common, life-threatening birth defect. We present a family with recurrent CDH—paraesophageal and... |
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SubjectTerms | Adult Child, Preschool congenital diaphragmatic hernia DES DNA Mutational Analysis Exome exome sequencing FBN1 Female Fibrillin-1 Fibrillins Frameshift Mutation Genetic Association Studies Hernias, Diaphragmatic, Congenital - diagnosis Hernias, Diaphragmatic, Congenital - genetics Humans Male Marfan syndrome Marfan Syndrome - diagnosis Marfan Syndrome - genetics MET Microfilament Proteins - genetics oligogenic inheritance PAX3 Pedigree |
Title | FBN1 contributing to familial congenital diaphragmatic hernia |
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