Rare variants in
Xenopus
association
congenital heart defect
development
exome sequencing
frog
oligogenic
Journal
HGG advances
ISSN: 2666-2477
Titre abrégé: HGG Adv
Pays: United States
ID NLM: 101772885
Informations de publication
Date de publication:
12 10 2023
12 10 2023
Historique:
received:
24
04
2023
accepted:
07
08
2023
medline:
5
9
2023
pubmed:
4
9
2023
entrez:
4
9
2023
Statut:
epublish
Résumé
Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect (CHD) characterized by hypoplasia of the left ventricle and aorta along with stenosis or atresia of the aortic and mitral valves. HLHS represents only ∼4%-8% of all CHDs but accounts for ∼25% of deaths. HLHS is an isolated defect (i.e., iHLHS) in 70% of families, the vast majority of which are simplex. Despite intense investigation, the genetic basis of iHLHS remains largely unknown. We performed exome sequencing on 331 families with iHLHS aggregated from four independent cohorts. A Mendelian-model-based analysis demonstrated that iHLHS was not due to single, large-effect alleles in genes previously reported to underlie iHLHS or CHD in >90% of families in this cohort. Gene-based association testing identified increased risk for iHLHS associated with variation in
Identifiants
pubmed: 37663545
doi: 10.1016/j.xhgg.2023.100232
pii: S2666-2477(23)00064-7
pmc: PMC10474499
doi:
Substances chimiques
Calpain
EC 3.4.22.-
CAPN2 protein, human
EC 3.4.22.53
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Research Support, U.S. Gov't, P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
100232Subventions
Organisme : HSRD VA
ID : CDP 13-003
Pays : United States
Organisme : EPA
ID : EP-D-18-001
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG006493
Pays : United States
Organisme : NHGRI NIH HHS
ID : U24 HG008956
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD095937
Pays : United States
Informations de copyright
© 2023 The Author(s).
Déclaration de conflit d'intérêts
M.J.B. and J.X.C. are the editor-in-chief and deputy editor, respectively, of Human Genetics and Genomics Advances and were recused from the editorial handling of this article. J.J.W. is an employee and shareholder of Invitae. M.J.B. is chair of the Scientific Advisory Board of GeneDx. S.M. is on the Hypertrophic Cardiomyopathy Advisory Board of Bristol-Myers Squibb.
Références
Genome Med. 2017 Oct 31;9(1):95
pubmed: 29089047
Pediatr Cardiol. 2018 Aug;39(6):1069-1081
pubmed: 29569026
Birth Defects Res A Clin Mol Teratol. 2007 Oct;79(10):714-27
pubmed: 17729292
Birth Defects Res A Clin Mol Teratol. 2003 Mar;67(3):193-201
pubmed: 12797461
Nat Genet. 2010 Sep;42(9):790-3
pubmed: 20711175
Circ Cardiovasc Genet. 2015 Aug;8(4):564-71
pubmed: 26085007
Am J Med Genet. 2001 May 15;100(4):269-74
pubmed: 11343317
Bioinformatics. 2009 Jul 15;25(14):1754-60
pubmed: 19451168
Exp Cell Res. 2004 Jan 1;292(1):187-200
pubmed: 14720518
Am J Dis Child. 1989 Dec;143(12):1492-4
pubmed: 2589285
Am J Med Genet A. 2015 May;167A(5):1175-7
pubmed: 25885069
Am J Hum Genet. 2017 Mar 2;100(3):406-413
pubmed: 28190455
Physiol Genomics. 2016 Dec 1;48(12):912-921
pubmed: 27789736
Cancer Res. 2017 Nov 1;77(21):e31-e34
pubmed: 29092934
Kidney Int. 2007 Apr;71(7):655-63
pubmed: 17290296
Eur Heart J. 2018 Mar 21;39(12):1015-1022
pubmed: 29106500
Prenat Diagn. 2012 Oct;32(10):1016-8
pubmed: 22821648
Genome Res. 2010 Sep;20(9):1297-303
pubmed: 20644199
Commun Integr Biol. 2017 May 10;10(3):e1309488
pubmed: 28702127
Am J Hum Genet. 2016 Jan 7;98(1):127-48
pubmed: 26748516
Mol Cell Biol. 2011 Oct;31(19):4097-106
pubmed: 21791606
Am J Hum Genet. 2015 Mar 5;96(3):462-73
pubmed: 25683120
Am J Med Genet A. 2005 Apr 15;134A(2):180-6
pubmed: 15690347
Biochemistry. 1988 Oct 18;27(21):8122-8
pubmed: 2852952
J Cardiovasc Pharmacol. 2010 Jun;55(6):567-73
pubmed: 20224428
J Am Coll Cardiol. 2003 Jun 4;41(11):2072-6
pubmed: 12798584
Gigascience. 2015 Feb 25;4:7
pubmed: 25722852
Dev Biol. 2013 Dec 1;384(1):83-100
pubmed: 24076278
Nat Genet. 2005 Apr;37(4):423-8
pubmed: 15735645
Brain Res. 2000 Jan 10;852(2):326-34
pubmed: 10678759
J Cell Biol. 2000 Oct 30;151(3):685-96
pubmed: 11062268
Am J Hum Genet. 2015 Aug 6;97(2):199-215
pubmed: 26166479
Nat Genet. 2016 Sep;48(9):1060-5
pubmed: 27479907
J Biol Chem. 2010 Apr 9;285(15):11418-26
pubmed: 20150423
J Cardiovasc Dev Dis. 2016 Jun 04;3(2):
pubmed: 29367567
Nat Genet. 2017 Nov;49(11):1593-1601
pubmed: 28991257
Circ Res. 2011 Aug 5;109(4):453-62
pubmed: 21817165
Pediatrics. 2006 Jan;117(1):168-83
pubmed: 16396875
PLoS Genet. 2009 Feb;5(2):e1000384
pubmed: 19214210
CSH Protoc. 2008 Feb 01;2008:pdb.prot4957
pubmed: 21356778
Dev Biol. 2009 Oct 15;334(2):395-408
pubmed: 19660447
Bioinformatics. 2015 Jul 1;31(13):2202-4
pubmed: 25701572
Cardiovasc Res. 2017 Dec 01;113(14):1732-1742
pubmed: 29016838
Int J Dev Biol. 2008;52(4):383-8
pubmed: 18415939
Biochim Biophys Acta. 1997 Sep 11;1358(2):181-8
pubmed: 9332454
Arch Pediatr Adolesc Med. 1997 Nov;151(11):1096-103
pubmed: 9369870
Pediatrics. 2012 Nov;130(5):e1198-205
pubmed: 23045559
Pediatrics. 1990 Jan;85(1):1-9
pubmed: 2404255
Circulation. 2005 Jul 5;112(1):54-9
pubmed: 15998695
Birth Defects Res A Clin Mol Teratol. 2010 Dec;88(12):1008-16
pubmed: 20878909
J Biol Chem. 2002 Jul 5;277(27):24435-41
pubmed: 11964413
Genome Res. 2012 Aug;22(8):1525-32
pubmed: 22585873
Circ Cardiovasc Genet. 2015 Aug;8(4):572-581
pubmed: 25963545
Genesis. 2015 Jul;53(7):417-30
pubmed: 26138338
Circ Res. 2014 Oct 24;115(10):884-896
pubmed: 25205790
Cell. 1987 Nov 20;51(4):569-77
pubmed: 2824061
Mutat Res. 2001 Aug 8;479(1-2):173-86
pubmed: 11470490
Bioinformatics. 2010 Aug 15;26(16):2069-70
pubmed: 20562413
Am J Hum Genet. 2012 Jan 13;90(1):119-24
pubmed: 22197486
J Epidemiol Community Health. 2000 Sep;54(9):660-6
pubmed: 10942444
PLoS Genet. 2018 Dec 10;14(12):e1007822
pubmed: 30532227
Orphanet J Rare Dis. 2017 Aug 10;12(1):138
pubmed: 28793912
Birth Defects Res. 2019 Dec 1;111(20):1618-1632
pubmed: 31328417
J Am Coll Cardiol. 2007 Oct 16;50(16):1590-5
pubmed: 17936159
Exp Cell Res. 2004 Sep 10;299(1):179-87
pubmed: 15302585
J Cardiovasc Dev Dis. 2019 Feb 23;6(1):
pubmed: 30813450
MMWR Morb Mortal Wkly Rep. 2008 Jan 11;57(1):1-5
pubmed: 18185492
Development. 2017 Aug 1;144(15):2764-2770
pubmed: 28684626
J Cell Biol. 2007 Nov 5;179(3):553-65
pubmed: 17967945
Birth Defects Res A Clin Mol Teratol. 2015 Aug;103(8):656-69
pubmed: 26033852
Am J Obstet Gynecol. 2008 Sep;199(3):237.e1-9
pubmed: 18674752
Am J Hum Genet. 2012 Aug 10;91(2):224-37
pubmed: 22863193
Nature. 2016 Oct 19;538(7625):336-343
pubmed: 27762356
Biol Cell. 2003 Dec;95(9):615-23
pubmed: 14720464
Dev Biol. 1987 Aug;122(2):300-19
pubmed: 3596014
Hum Genet. 2015 Sep;134(9):1003-11
pubmed: 26164125
PLoS Comput Biol. 2013;9(7):e1003153
pubmed: 23874191
Genome Med. 2021 Feb 22;13(1):31
pubmed: 33618777
Biochem J. 1992 Oct 1;287 ( Pt 1):163-71
pubmed: 1417770
BMJ. 2017 May 30;357:j2249
pubmed: 28559234
Nat Genet. 2017 Jul;49(7):1152-1159
pubmed: 28530678
Biochim Biophys Acta. 2012 Jul;1820(7):907-20
pubmed: 22402252
Science. 2015 Dec 4;350(6265):1262-6
pubmed: 26785492