The complex genetics of hypoplastic left heart syndrome
Cecilia Lo and colleagues report the recovery of mice with hypoplastic left heart syndrome (HLHS) from a large mutagenesis screen. They find genetic heterogeneity among HLHS mice and functionally validate mutations in two genes, Sap130 and Pcdha , as contributing to HLHS in a combinatorial manner. C...
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| Published in | Nature genetics Vol. 49; no. 7; pp. 1152 - 1159 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
New York
Nature Publishing Group US
01.07.2017
Nature Publishing Group |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1061-4036 1546-1718 1546-1718 |
| DOI | 10.1038/ng.3870 |
Cover
| Abstract | Cecilia Lo and colleagues report the recovery of mice with hypoplastic left heart syndrome (HLHS) from a large mutagenesis screen. They find genetic heterogeneity among HLHS mice and functionally validate mutations in two genes,
Sap130
and
Pcdha
, as contributing to HLHS in a combinatorial manner.
Congenital heart disease (CHD) affects up to 1% of live births
1
. Although a genetic etiology is indicated by an increased recurrence risk
2
,
3
, sporadic occurrence suggests that CHD genetics is complex
4
. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS
5
,
6
,
7
. Mutations in
Sap130
and
Pcdha9
, genes not previously associated with CHD, were validated by CRISPR–Cas9 genome editing in mice as being digenic causes of HLHS. We also identified one subject with HLHS with
SAP130
and
PCDHA13
mutations. Mouse and zebrafish modeling showed that
Sap130
mediates left ventricular hypoplasia, whereas
Pcdha9
increases penetrance of aortic valve abnormalities, both signature HLHS defects. These findings show that HLHS can arise genetically in a combinatorial fashion, thus providing a new paradigm for the complex genetics of CHD. |
|---|---|
| AbstractList | Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS. Mutations in Sap130 and Pcdha9, genes not previously associated with CHD, were validated by CRISPR-Cas9 genome editing in mice as being digenic causes of HLHS. We also identified one subject with HLHS with SAP130 and PCDHA13 mutations. Mouse and zebrafish modeling showed that Sap130 mediates left ventricular hypoplasia, whereas Pcdha9 increases penetrance of aortic valve abnormalities, both signature HLHS defects. These findings show that HLHS can arise genetically in a combinatorial fashion, thus providing a new paradigm for the complex genetics of CHD. Congenital heart disease (CHD) affects up to 1 % of live births 1 . Although a genetic etiology is indicated by an increased recurrence risk 2 , 3 , sporadic occurrence suggests that CHD genetics is complex 4 . Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS 5 – 7 . Mutations in Sap130 and Pcdha9 , genes not previously associated with CHD, were validated by CRISPR–Cas9 genome editing in mice as being digenic causes of HLHS. We also identified one subject with HLHS with SAP130 and PCDHA13 mutations. Mouse and zebrafish modeling showed that Sap130 mediates left ventricular hypoplasia, whereas Pcdha9 increases penetrance of aortic valve abnormalities, both signature HLHS defects. These findings show that HLHS can arise genetically in a combinatorial fashion, thus providing a new paradigm for the complex genetics of CHD. Cecilia Lo and colleagues report the recovery of mice with hypoplastic left heart syndrome (HLHS) from a large mutagenesis screen. They find genetic heterogeneity among HLHS mice and functionally validate mutations in two genes, Sap130 and Pcdha , as contributing to HLHS in a combinatorial manner. Congenital heart disease (CHD) affects up to 1% of live births 1 . Although a genetic etiology is indicated by an increased recurrence risk 2 , 3 , sporadic occurrence suggests that CHD genetics is complex 4 . Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS 5 , 6 , 7 . Mutations in Sap130 and Pcdha9 , genes not previously associated with CHD, were validated by CRISPR–Cas9 genome editing in mice as being digenic causes of HLHS. We also identified one subject with HLHS with SAP130 and PCDHA13 mutations. Mouse and zebrafish modeling showed that Sap130 mediates left ventricular hypoplasia, whereas Pcdha9 increases penetrance of aortic valve abnormalities, both signature HLHS defects. These findings show that HLHS can arise genetically in a combinatorial fashion, thus providing a new paradigm for the complex genetics of CHD. Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS. Mutations in Sap130 and Pcdha9, genes not previously associated with CHD, were validated by CRISPR-Cas9 genome editing in mice as being digenic causes of HLHS. We also identified one subject with HLHS with SAP130 and PCDHA13 mutations. Mouse and zebrafish modeling showed that Sap130 mediates left ventricular hypoplasia, whereas Pcdha9 increases penetrance of aortic valve abnormalities, both signature HLHS defects. These findings show that HLHS can arise genetically in a combinatorial fashion, thus providing a new paradigm for the complex genetics of CHD.Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS. Mutations in Sap130 and Pcdha9, genes not previously associated with CHD, were validated by CRISPR-Cas9 genome editing in mice as being digenic causes of HLHS. We also identified one subject with HLHS with SAP130 and PCDHA13 mutations. Mouse and zebrafish modeling showed that Sap130 mediates left ventricular hypoplasia, whereas Pcdha9 increases penetrance of aortic valve abnormalities, both signature HLHS defects. These findings show that HLHS can arise genetically in a combinatorial fashion, thus providing a new paradigm for the complex genetics of CHD. Congenital heart disease (CHD) affects up to 1 % of live births1. Although a genetic etiology is indicated by an increased recurrence risk2,3, sporadic occurrence suggests that CHD genetics is complex4. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS5-7. Mutations in Sap130 and Pcdha9, genes not previously associated with CHD, were validated by CRISPR-Cas9 genome editing in mice as being digenic causes of HLHS. We also identified one subject with HLHS with SAP130 and PCDHA13 mutations. Mouse and zebrafish modeling showed that Sap130 mediates left ventricular hypoplasia, whereas Pcdha9 increases penetrance of aortic valve abnormalities, both signature HLHS defects. These findings show that HLHS can arise genetically in a combinatorial fashion, thus providing a new paradigm for the complex genetics of CHD. |
| Audience | Academic |
| Author | Saeed, Shazina Devine, William de Mesy Bentley, Karen L Leatherbury, Linda Reynolds, William T Li, You Chatterjee, Bishwanath Grossfeld, Paul Aronow, Bruce J Gabriel, George C Ganapathiraju, Madhavi K Kostka, Dennis Wu, Yijen Lo, Cecilia W Benson, D Woodrow Schwartz, Molly C Saydmohammed, Manush Martin, Lisa J Tsang, Michael Bhagat, Anchit Bais, Abha S Khalifa, Omar Pu, William Liu, Xiaoqin Chen, Zhaohan Gibbs, Brian Watkins, Simon Yagi, Hisato Zahid, Maliha Murray, Stephen A Peterson, Kevin A Dexheimer, Phillip Porter, George A Klena, Nikolai T |
| AuthorAffiliation | 3 Pathology & Laboratory Medicine and the Electron Microscope Research Core, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA 8 Department of Cell Biology, Center for Biological Imaging, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA 1 Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA 11 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA 4 Department of Biomedical Informatics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA 12 Pediatric Cardiology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA 10 Department of Pediatrics, Division of Cardiology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA 5 Department of Biomedical Informatics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA 9 Division of Cardiology, University of San Diego School |
| AuthorAffiliation_xml | – name: 2 The Jackson Laboratory, Bar Harbor, Maine, USA – name: 3 Pathology & Laboratory Medicine and the Electron Microscope Research Core, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA – name: 9 Division of Cardiology, University of San Diego School of Medicine, San Diego, California, USA – name: 1 Department of Developmental Biology, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA – name: 4 Department of Biomedical Informatics, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA – name: 11 Division of Human Genetics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA – name: 10 Department of Pediatrics, Division of Cardiology, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA – name: 7 Department of Cardiology, Boston Children’s Hospital, Boston, Massachusetts, USA – name: 8 Department of Cell Biology, Center for Biological Imaging, University of Pittsburgh School of Medicine, Pittsburgh, Pennsylvania, USA – name: 6 Division of Cardiology, Children’s National Medical Center, Washington, D.C., USA – name: 12 Pediatric Cardiology, Medical College of Wisconsin, Milwaukee, Wisconsin, USA – name: 5 Department of Biomedical Informatics, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA |
| Author_xml | – sequence: 1 givenname: Xiaoqin surname: Liu fullname: Liu, Xiaoqin organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 2 givenname: Hisato orcidid: 0000-0003-1460-4043 surname: Yagi fullname: Yagi, Hisato organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 3 givenname: Shazina surname: Saeed fullname: Saeed, Shazina organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 4 givenname: Abha S surname: Bais fullname: Bais, Abha S organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 5 givenname: George C surname: Gabriel fullname: Gabriel, George C organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 6 givenname: Zhaohan surname: Chen fullname: Chen, Zhaohan organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 7 givenname: Kevin A surname: Peterson fullname: Peterson, Kevin A organization: The Jackson Laboratory – sequence: 8 givenname: You surname: Li fullname: Li, You organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 9 givenname: Molly C surname: Schwartz fullname: Schwartz, Molly C organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 10 givenname: William T surname: Reynolds fullname: Reynolds, William T organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 11 givenname: Manush surname: Saydmohammed fullname: Saydmohammed, Manush organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 12 givenname: Brian surname: Gibbs fullname: Gibbs, Brian organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 13 givenname: Yijen surname: Wu fullname: Wu, Yijen organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 14 givenname: William surname: Devine fullname: Devine, William organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 15 givenname: Bishwanath surname: Chatterjee fullname: Chatterjee, Bishwanath organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 16 givenname: Nikolai T surname: Klena fullname: Klena, Nikolai T organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 17 givenname: Dennis surname: Kostka fullname: Kostka, Dennis organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 18 givenname: Karen L surname: de Mesy Bentley fullname: de Mesy Bentley, Karen L organization: Pathology & Laboratory Medicine and the Electron Microscope Research Core, University of Rochester School of Medicine and Dentistry – sequence: 19 givenname: Madhavi K surname: Ganapathiraju fullname: Ganapathiraju, Madhavi K organization: Department of Biomedical Informatics, University of Pittsburgh School of Medicine – sequence: 20 givenname: Phillip surname: Dexheimer fullname: Dexheimer, Phillip organization: Department of Biomedical Informatics, Cincinnati Children's Hospital Medical Center – sequence: 21 givenname: Linda surname: Leatherbury fullname: Leatherbury, Linda organization: Division of Cardiology, Children's National Medical Center – sequence: 22 givenname: Omar surname: Khalifa fullname: Khalifa, Omar organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 23 givenname: Anchit surname: Bhagat fullname: Bhagat, Anchit organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 24 givenname: Maliha surname: Zahid fullname: Zahid, Maliha organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 25 givenname: William surname: Pu fullname: Pu, William organization: Department of Cardiology, Boston Children's Hospital – sequence: 26 givenname: Simon surname: Watkins fullname: Watkins, Simon organization: Department of Cell Biology, Center for Biological Imaging, University of Pittsburgh School of Medicine – sequence: 27 givenname: Paul surname: Grossfeld fullname: Grossfeld, Paul organization: Division of Cardiology, University of San Diego School of Medicine – sequence: 28 givenname: Stephen A surname: Murray fullname: Murray, Stephen A organization: The Jackson Laboratory – sequence: 29 givenname: George A orcidid: 0000-0003-0726-9988 surname: Porter fullname: Porter, George A organization: Department of Pediatrics, Division of Cardiology, University of Rochester School of Medicine and Dentistry – sequence: 30 givenname: Michael orcidid: 0000-0001-7123-0063 surname: Tsang fullname: Tsang, Michael organization: Department of Developmental Biology, University of Pittsburgh School of Medicine – sequence: 31 givenname: Lisa J orcidid: 0000-0001-8702-9946 surname: Martin fullname: Martin, Lisa J organization: Division of Human Genetics, Cincinnati Children's Hospital Medical Center – sequence: 32 givenname: D Woodrow surname: Benson fullname: Benson, D Woodrow organization: Pediatric Cardiology, Medical College of Wisconsin – sequence: 33 givenname: Bruce J surname: Aronow fullname: Aronow, Bruce J organization: Department of Biomedical Informatics, Cincinnati Children's Hospital Medical Center – sequence: 34 givenname: Cecilia W orcidid: 0000-0003-4314-3434 surname: Lo fullname: Lo, Cecilia W email: cel36@pitt.edu organization: Department of Developmental Biology, University of Pittsburgh School of Medicine |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/28530678$$D View this record in MEDLINE/PubMed |
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| Snippet | Cecilia Lo and colleagues report the recovery of mice with hypoplastic left heart syndrome (HLHS) from a large mutagenesis screen. They find genetic... Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence... Congenital heart disease (CHD) affects up to 1 % of live births1. Although a genetic etiology is indicated by an increased recurrence risk2,3, sporadic... Congenital heart disease (CHD) affects up to 1 % of live births 1 . Although a genetic etiology is indicated by an increased recurrence risk 2 , 3 , sporadic... |
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| Title | The complex genetics of hypoplastic left heart syndrome |
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