Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis

Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies. We performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a...

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Published inGenetics in medicine Vol. 20; no. 7; pp. 745 - 753
Main Authors Boissel, Sarah, Fallet-Bianco, Catherine, Chitayat, David, Kremer, Valérie, Nassif, Christina, Rypens, Françoise, Delrue, Marie-Ange, Dal Soglio, Dorothée, Oligny, Luc L., Patey, Natalie, Flori, Elisabeth, Cloutier, Mireille, Dyment, David, Campeau, Philippe, Karalis, Aspasia, Nizard, Sonia, Fraser, William D., Audibert, François, Lemyre, Emmanuelle, Rouleau, Guy A., Hamdan, Fadi F., Kibar, Zoha, Michaud, Jacques L.
Format Journal Article
LanguageEnglish
Published New York Elsevier Inc 01.07.2018
Nature Publishing Group US
Elsevier Limited
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Abstract Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies. We performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a/dysgenesis, VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), brain anomalies, suspected ciliopathies, multiple major malformations, and akinesia. A molecular diagnosis was obtained in 19 cases (19%). In 13 of these cases, the diagnosis was not initially suspected by the clinicians because the phenotype was nonspecific or atypical, corresponding in some cases to the severe end of the spectrum of a known disease (e.g., MNX1-, RYR1-, or TUBB-related disorders). In addition, we identified likely pathogenic variants in genes (DSTYK, ACTB, and HIVEP2) previously associated with phenotypes that were substantially different from those found in our cases. Finally, we identified variants in novel candidate genes that were associated with perinatal lethality, including de novo mutations in GREB1L in two cases with bilateral renal agenesis, which represents a significant enrichment of such mutations in our cohort. Our study opens a window on the distinctive genetic landscape associated with fetal anomalies and highlights the power—but also the challenges—of WES in prenatal diagnosis.
AbstractList Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies. We performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a/dysgenesis, VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), brain anomalies, suspected ciliopathies, multiple major malformations, and akinesia. A molecular diagnosis was obtained in 19 cases (19%). In 13 of these cases, the diagnosis was not initially suspected by the clinicians because the phenotype was nonspecific or atypical, corresponding in some cases to the severe end of the spectrum of a known disease (e.g., MNX1-, RYR1-, or TUBB-related disorders). In addition, we identified likely pathogenic variants in genes (DSTYK, ACTB, and HIVEP2) previously associated with phenotypes that were substantially different from those found in our cases. Finally, we identified variants in novel candidate genes that were associated with perinatal lethality, including de novo mutations in GREB1L in two cases with bilateral renal agenesis, which represents a significant enrichment of such mutations in our cohort. Our study opens a window on the distinctive genetic landscape associated with fetal anomalies and highlights the power-but also the challenges-of WES in prenatal diagnosis.
PurposeFetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies.MethodsWe performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a/dysgenesis, VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), brain anomalies, suspected ciliopathies, multiple major malformations, and akinesia.ResultsA molecular diagnosis was obtained in 19 cases (19%). In 13 of these cases, the diagnosis was not initially suspected by the clinicians because the phenotype was nonspecific or atypical, corresponding in some cases to the severe end of the spectrum of a known disease (e.g., MNX1-, RYR1-, or TUBB-related disorders). In addition, we identified likely pathogenic variants in genes (DSTYK, ACTB, and HIVEP2) previously associated with phenotypes that were substantially different from those found in our cases. Finally, we identified variants in novel candidate genes that were associated with perinatal lethality, including de novo mutations in GREB1L in two cases with bilateral renal agenesis, which represents a significant enrichment of such mutations in our cohort.ConclusionOur study opens a window on the distinctive genetic landscape associated with fetal anomalies and highlights the power—but also the challenges—of WES in prenatal diagnosis.
Purpose Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the investigation of these anomalies. Methods We performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies, including renal a/dysgenesis, VACTERL association (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities), brain anomalies, suspected ciliopathies, multiple major malformations, and akinesia. Results A molecular diagnosis was obtained in 19 cases (19%). In 13 of these cases, the diagnosis was not initially suspected by the clinicians because the phenotype was nonspecific or atypical, corresponding in some cases to the severe end of the spectrum of a known disease (e.g., MNX1- , RYR1- , or TUBB- related disorders). In addition, we identified likely pathogenic variants in genes ( DSTYK , ACTB , and HIVEP2 ) previously associated with phenotypes that were substantially different from those found in our cases. Finally, we identified variants in novel candidate genes that were associated with perinatal lethality, including de novo mutations in GREB1L in two cases with bilateral renal agenesis, which represents a significant enrichment of such mutations in our cohort. Conclusion Our study opens a window on the distinctive genetic landscape associated with fetal anomalies and highlights the power—but also the challenges—of WES in prenatal diagnosis.
Author Kremer, Valérie
Flori, Elisabeth
Dyment, David
Nassif, Christina
Oligny, Luc L.
Fallet-Bianco, Catherine
Rypens, Françoise
Hamdan, Fadi F.
Dal Soglio, Dorothée
Boissel, Sarah
Chitayat, David
Delrue, Marie-Ange
Patey, Natalie
Fraser, William D.
Lemyre, Emmanuelle
Cloutier, Mireille
Nizard, Sonia
Michaud, Jacques L.
Campeau, Philippe
Kibar, Zoha
Karalis, Aspasia
Audibert, François
Rouleau, Guy A.
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  organization: The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada
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29565422 - Genet Med. 2018 Jul;20(7):695-696
Iossifov (10.1038/gim.2017.173_bb0040)
Lee (10.1038/gim.2017.173_bb0130)
Sifrim (10.1038/gim.2017.173_bb0020)
Ferrara (10.1038/gim.2017.173_bb0175)
Bonnefond (10.1038/gim.2017.173_bb0155)
Ibanez-Tallon (10.1038/gim.2017.173_bb0125)
Romero (10.1038/gim.2017.173_bb0185)
10.1038/gim.2017.173_bb0195
Isrie (10.1038/gim.2017.173_bb0100)
Flanagan (10.1038/gim.2017.173_bb0150)
Cain (10.1038/gim.2017.173_bb0075)
Sanna-Cherchi (10.1038/gim.2017.173_bb0085)
Ghosh (10.1038/gim.2017.173_bb0055)
Westerfield (10.1038/gim.2017.173_bb0215)
Verloes (10.1038/gim.2017.173_bb0105)
Shirane (10.1038/gim.2017.173_bb0160)
Carss (10.1038/gim.2017.173_bb0190)
Richards (10.1038/gim.2017.173_bb0030)
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Breuss (10.1038/gim.2017.173_bb0095)
Lee (10.1038/gim.2017.173_bb0010)
Kryukov (10.1038/gim.2017.173_bb0035)
Winata (10.1038/gim.2017.173_bb0070)
Srour (10.1038/gim.2017.173_bb0210)
Korzh (10.1038/gim.2017.173_bb0090)
Carmeliet (10.1038/gim.2017.173_bb0170)
Mohammed (10.1038/gim.2017.173_bb0060)
Solomon (10.1038/gim.2017.173_bb0140)
Winberg (10.1038/gim.2017.173_bb0080)
Samuels (10.1038/gim.2017.173_bb0025)
Drury (10.1038/gim.2017.173_bb0200)
Sawyer (10.1038/gim.2017.173_bb0205)
Harewood (10.1038/gim.2017.173_bb0045)
Zhang (10.1038/gim.2017.173_bb0120)
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Wong (10.1038/gim.2017.173_bb0165)
Lovrecic (10.1038/gim.2017.173_bb0015)
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Samocha (10.1038/gim.2017.173_bb0050)
Srivastava (10.1038/gim.2017.173_bb0115)
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SSID ssj0017320
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Snippet Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on the...
Purpose Fetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on...
PurposeFetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on...
PURPOSEFetal anomalies represent a poorly studied group of developmental disorders. Our objective was to assess the impact of whole-exome sequencing (WES) on...
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springer
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StartPage 745
SubjectTerms Abnormalities, Multiple - genetics
Abnormalities, Multiple - pathology
Adult
Anal Canal - abnormalities
Biomedical and Life Sciences
Biomedicine
Congenital Abnormalities - genetics
Esophagus - abnormalities
Family
Female
Fetus - abnormalities
Fetus - pathology
Genomics
Genotype
Heart Defects, Congenital - genetics
Human Genetics
Humans
Hydrocephalus - genetics
Kidney - abnormalities
Kidney Diseases - congenital
Kidney Diseases - genetics
Laboratory Medicine
Limb Deformities, Congenital - genetics
Male
Mutation
Neoplasm Proteins - genetics
Phenotype
Pregnancy
Prenatal Diagnosis - methods
Spine - abnormalities
Stillbirth - genetics
Trachea - abnormalities
Tracheoesophageal Fistula - genetics
Urogenital Abnormalities - genetics
Whole Exome Sequencing - methods
Title Genomic study of severe fetal anomalies and discovery of GREB1L mutations in renal agenesis
URI https://dx.doi.org/10.1038/gim.2017.173
https://link.springer.com/article/10.1038/gim.2017.173
https://www.ncbi.nlm.nih.gov/pubmed/29261186
https://www.proquest.com/docview/2069383132
https://search.proquest.com/docview/1979169534
Volume 20
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