No evidence for mosaic pathogenic copy number variations in cardiac tissue from patients with congenital heart malformations

European Journal of Medical Genetics

Volumn 58, Issue 3, 2015, Pages 129-133

  Winberg, Johanna ^a   Berggren, Håkan ^b   Malm, Torsten ^c   Johansson, Sune ^c   Johansson Ramgren, Jens ^c   Nilsson, Boris ^b   Liedén, Agne ^a   Nordenskjöld, Agneta ^a,d   Gustavsson, Peter ^a   Nordgren, Ann ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b QUEEN SILVIA CHILDREN'S HOSPITAL   (Sweden)

^c LUND UNIVERSITY HOSPITAL   (Sweden)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Array CGH; Congenital heart malformations; Copy number variation; Mosaicism

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ARTICLE; CHILD; CHROMOSOME 17Q; CHROMOSOME 5P; CHROMOSOME 8Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; COPY NUMBER VARIATION; EXON; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DOSAGE; GENETIC SCREENING; HEART SURGERY; HUMAN; HUMAN TISSUE; INFANT; MALE; METAPHASE CHROMOSOME; MOSAICISM; PRESCHOOL CHILD; GENETICS; HEART; HEART DEFECTS, CONGENITAL; NEWBORN; PATHOPHYSIOLOGY;

COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; FEMALE; HEART; HEART DEFECTS, CONGENITAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOSAICISM;

EID: 84924571814     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2015.01.003     Document Type: Article

References (34)

1. Balamotis M.A., Pennella M.A., Stevens J.L., Wasylyk B., Belmont A.S., Berk A.J. Complexity in transcription control at the activation domain-mediator interface. Sci. Signal 2009, 2:ra20.
2. Ballif B.C., Rorem E.A., Sundin K., Lincicum M., Gaskin S., Coppinger J., Kashork C.D., Shaffer L.G., Bejjani B.A. Detection of low-level mosaicism by array CGH in routine diagnostic specimens. Am. J. Med. Genet. A 2006, 140:2757-2767.
3. Barth J.L., Clark C.D., Fresco V.M., Knoll E.P., Lee B., Argraves W.S., Lee K.H. Jarid2 is among a set of genes differentially regulated by Nkx2.5 during outflow tract morphogenesis. Dev. Dyn. 2010, 239:2024-2033.
4. Breckpot J., Thienpont B., Peeters H., de Ravel T., Singer A., Rayyan M., Allegaert K., Vanhole C., Eyskens B., Vermeesch J.R., Gewillig M., Devriendt K. Array comparative genomic hybridization as a diagnostic tool for syndromic heart defects. J.Pediatr. 2010, 156:810-817. 817 e811-817 e814.
5. Burrage L.C., Eble T.N., Hixson P.M., Roney E.K., Cheung S.W., Franco L.M. Amosaic 2q24.2 deletion narrows the critical region to a 0.4 Mb interval that includes TBR1, TANK, and PSMD14. Am. J. Med. Genet. A 2013, 161A:841-844.
6. Campbell I.M., Yuan B., Robberecht C., Pfundt R., Szafranski P., McEntagart M.E., Nagamani S.C., Erez A., Bartnik M., Wisniowiecka-Kowalnik B., Plunkett K.S., Pursley A.N., Kang S.H., Bi W., Lalani S.R., Bacino C.A., Vast M., Marks K., Patton M., Olofsson P., Patel A., Veltman J.A., Cheung S.W., Shaw C.A., Vissers L.E., Vermeesch J.R., Lupski J.R., Stankiewicz P. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am. J. Hum. Genet. 2014, 95:173-182.
7. Chen X., Niroomand F., Liu Z., Zankl A., Katus H.A., Jahn L., Tiefenbacher C.P. Expression of nitric oxide related enzymes in coronary heart disease. Basic Res. Cardiol. 2006, 101:346-353.
8. Conlin L.K., Thiel B.D., Bonnemann C.G., Medne L., Ernst L.M., Zackai E.H., Deardorff M.A., Krantz I.D., Hakonarson H., Spinner N.B. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis. Hum. Mol. Genet. 2010, 19:1263-1275.
9. Cote N., El Husseini D., Pepin A., Guauque-Olarte S., Ducharme V., Bouchard-Cannon P., Audet A., Fournier D., Gaudreault N., Derbali H., McKee M.D., Simard C., Despres J.P., Pibarot P., Bosse Y., Mathieu P. ATP acts as a survival signal and prevents the mineralization of aortic valve. J.Mol. Cell. Cardiol. 2012, 52:1191-1202.
10. Draus J.M., Hauck M.A., Goetsch M., Austin E.H., Tomita-Mitchell A., Mitchell M.E. Investigation of somatic NKX2-5 mutations in congenital heart disease. J.Med. Genet. 2009, 46:115-122.
11. Esposito G., Butler T.L., Blue G.M., Cole A.D., Sholler G.F., Kirk E.P., Grossfeld P., Perryman B.M., Harvey R.P., Winlaw D.S. Somatic mutations in NKX2-5, GATA4, and HAND1 are not a common cause of tetralogy of Fallot or hypoplastic left heart. Am. J. Med. Genet. A 2011, 155A:2416-2421.
12. Fahed A.C., Gelb B.D., Seidman J.G., Seidman C.E. Genetics of congenital heart disease: the glass half empty. Circ. Res. 2013, 112:707-720.
13. Glessner J.T., Bick A.G., Ito K., Homsy J.G., Rodriguez-Murillo L., Fromer M., Mazaika E., Vardarajan B., Italia M., Leipzig J., DePalma S.R., Golhar R., Sanders S.J., Yamrom B., Ronemus M., Iossifov I., Willsey A.J., State M.W., Kaltman J.R., White P.S., Shen Y., Warburton D., Brueckner M., Seidman C., Goldmuntz E., Gelb B.D., Lifton R., Seidman J., Hakonarson H., Chung W.K. Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data. Circ. Res. 2014, 115:884-896.
14. Greenway S.C., Pereira A.C., Lin J.C., DePalma S.R., Israel S.J., Mesquita S.M., Ergul E., Conta J.H., Korn J.M., McCarroll S.A., Gorham J.M., Gabriel S., Altshuler D.M., Quintanilla-Dieck Mde L., Artunduaga M.A., Eavey R.D., Plenge R.M., Shadick N.A., Weinblatt M.E., De Jager P.L., Hafler D.A., Breitbart R.E., Seidman J.G., Seidman C.E. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat. Genet. 2009, 41:931-935.
15. Hinton R.B., Martin L.J., Rame-Gowda S., Tabangin M.E., Cripe L.H., Benson D.W. Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve. J.Am. Coll. Cardiol. 2009, 53:1065-1071.
16. Huang R.T., Xue S., Xu Y.J., Yang Y.Q. Somatic mutations in the GATA6 gene underlie sporadic tetralogy of Fallot. Int. J. Mol. Med. 2013, 31:51-58.
17. Kay D.M., Stevens C.F., Hamza T.H., Montimurro J.S., Zabetian C.P., Factor S.A., Samii A., Griffith A., Roberts J.W., Molho E.S., Higgins D.S., Gancher S., Moses L., Zareparsi S., Poorkaj P., Bird T., Nutt J., Schellenberg G.D., Payami H. Acomprehensive analysis of deletions, multiplications, and copy number variations in PARK2. Neurology 2010, 75:1189-1194.
18. Kearney H.M., Thorland E.C., Brown K.K., Quintero-Rivera F., South S.T. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet. Med. 2011, 13:680-685.
19. Khoshnood B., Lelong N., Houyel L., Thieulin A.C., Jouannic J.M., Magnier S., Delezoide A.L., Magny J.F., Rambaud C., Bonnet D., Goffinet F., Group E.S. Prevalence, timing of diagnosis and mortality of newborns with congenital heart defects: a population-based study. Heart 2012, 98:1667-1673.
20. Lalani S.R., Shaw C., Wang X., Patel A., Patterson L.W., Kolodziejska K., Szafranski P., Ou Z., Tian Q., Kang S.H., Jinnah A., Ali S., Malik A., Hixson P., Potocki L., Lupski J.R., Stankiewicz P., Bacino C.A., Dawson B., Beaudet A.L., Boricha F.M., Whittaker R., Li C., Ware S.M., Cheung S.W., Penny D.J., Jefferies J.L., Belmont J.W. Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities. Eur. J. Hum. Genet. 2013, 21:173-181.
21. McBride K.L., Zender G.A., Fitzgerald-Butt S.M., Koehler D., Menesses-Diaz A., Fernbach S., Lee K., Towbin J.A., Leal S., Belmont J.W. Linkage analysis of left ventricular outflow tract malformations (aortic valve stenosis, coarctation of the aorta, and hypoplastic left heart syndrome). Eur. J. Hum. Genet. 2009, 17:811-819.
22. O'Huallachain M., Karczewski K.J., Weissman S.M., Urban A.E., Snyder M.P. Extensive genetic variation in somatic human tissues. Proc. Natl. Acad. Sci. USA. 2012, 109:18018-18023.
23. Palka C., Alfonsi M., Mohn A., Cerbo R., Guanciali Franchi P., Fantasia D., Morizio E., Stuppia L., Calabrese G., Zori R., Chiarelli F., Palka G. Mosaic 7q31 deletion involving FOXP2 gene associated with language impairment. Pediatrics 2012, 129:e183-188.
24. Pham J., Shaw C., Pursley A., Hixson P., Sampath S., Roney E., Gambin T., Kang S.H., Bi W., Lalani S., Bacino C., Lupski J.R., Stankiewicz P., Patel A., Cheung S.W. Somatic mosaicism detected by exon-targeted, high-resolution aCGH in 10,362 consecutive cases. Eur. J. Hum. Genet. 2014, 22:969-978.
25. Piotrowski A., Bruder C.E., Andersson R., Diaz de Stahl T., Menzel U., Sandgren J., Poplawski A., von Tell D., Crasto C., Bogdan A., Bartoszewski R., Bebok Z., Krzyzanowski M., Jankowski Z., Partridge E.C., Komorowski J., Dumanski J.P. Somatic mosaicism for copy number variation in differentiated human tissues. Hum. Mutat. 2008, 29:1118-1124.
26. Reamon-Buettner S.M., Hecker H., Spanel-Borowski K., Craatz S., Kuenzel E., Borlak J. Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations. Am. J. Pathol. 2004, 164:2117-2125.
27. Reamon-Buettner S.M., Ciribilli Y., Inga A., Borlak J. Aloss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts. Hum. Mol. Genet. 2008, 17:1397-1405.
28. Rutsch F., Ruf N., Vaingankar S., Toliat M.R., Suk A., Hohne W., Schauer G., Lehmann M., Roscioli T., Schnabel D., Epplen J.T., Knisely A., Superti-Furga A., McGill J., Filippone M., Sinaiko A.R., Vallance H., Hinrichs B., Smith W., Ferre M., Terkeltaub R., Nurnberg P. Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat. Genet. 2003, 34:379-381.
29. Schiano C., Casamassimi A., Vietri M.T., Rienzo M., Napoli C. The roles of mediator complex in cardiovascular diseases. Biochim. Biophys. Acta. 2014, 1839:444-451.
30. Silversides C.K., Lionel A.C., Costain G., Merico D., Migita O., Liu B., Yuen T., Rickaby J., Thiruvahindrapuram B., Marshall C.R., Scherer S.W., Bassett A.S. Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways. PLoS Genet. 2012, 8:e1002843.
31. Soemedi R., Wilson I.J., Bentham J., Darlay R., Topf A., Zelenika D., Cosgrove C., Setchfield K., Thornborough C., Granados-Riveron J., Blue G.M., Breckpot J., Hellens S., Zwolinkski S., Glen E., Mamasoula C., Rahman T.J., Hall D., Rauch A., Devriendt K., Gewillig M., J O.S., Winlaw D.S., Bu'Lock F., Brook J.D., Bhattacharya S., Lathrop M., Santibanez-Koref M., Cordell H.J., Goodship J.A., Keavney B.D. Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease. Am. J. Hum. Genet. 2012, 91:489-501.
32. Thienpont B., Mertens L., de Ravel T., Eyskens B., Boshoff D., Maas N., Fryns J.P., Gewillig M., Vermeesch J.R., Devriendt K. Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur. Heart J. 2007, 28:2778-2784.
33. Winberg J., Gustavsson P., Lagerstedt-Robinson K., Blennow E., Lundin J., Iwarsson E., Nordenstrom A., Anderlid B.M., Bondeson M.L., Nordenskjold A., Nordgren A. Chimerism resulting from parthenogenetic activation and dispermic fertilization. Am. J. Med. Genet. A 2010, 152A:2277-2286.
34. Winberg J., Gustavsson P., Papadogiannakis N., Sahlin E., Bradley F., Nordenskjold E., Svensson P.J., Anneren G., Iwarsson E., Nordgren A., Nordenskjold A. Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association. PLoS One 2014, 9:e85313.