Variants in GATA4 are a rare cause of familial and sporadic congenital diaphragmatic hernia

Human Genetics

Volumn 132, Issue 3, 2013, Pages 285-292

  Yu, Lan ^a   Wynn, Julia ^a   Cheung, Yee Him ^a   Shen, Yufeng ^a   Mychaliska, George B ^b   Crombleholme, Timothy M ^c   Azarow, Kenneth S ^d   Lim, Foong Yen ^e   Chung, Dai H ^f   Potoka, Douglas ^g   Warner, Brad W ^h   Bucher, Brian ^h   Stolar, Charles ^a   Aspelund, Gudrun ^a   Arkovitz, Marc S ⁱ   Chung, Wendy K ^a  

^a NewYork Presbyterian Hospital   (United States)

^b UNIVERSITY OF MICHIGAN HEALTH SYSTEM   (United States)

^c UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF NEBRASKA MEDICAL CENTER   (United States)

^e CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^f MONROE CARELL JR CHILDREN S HOSPITAL AT VANDERBILT   (United States)

^g UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^h WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ SHEBA MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR GATA 4; GATA4 PROTEIN, HUMAN;

ABDOMINAL RADIOGRAPHY; ARTICLE; CONGENITAL DIAPHRAGM HERNIA; FEMALE; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; THORAX RADIOGRAPHY; WHOLE EXOME SEQUENCING; COPY NUMBER VARIATION; DIAPHRAGM HERNIA; DNA SEQUENCE; EXOME; GENETIC ASSOCIATION; GENETICS; GENOTYPE; NEWBORN; SINGLE NUCLEOTIDE POLYMORPHISM;

DNA COPY NUMBER VARIATIONS; EXOME; GATA4 TRANSCRIPTION FACTOR; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HERNIA, DIAPHRAGMATIC; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; POLYMORPHISM, SINGLE NUCLEOTIDE; SEQUENCE ANALYSIS, DNA;

MLCS; MLOWN;

EID: 84875606307     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-012-1249-0     Document Type: Article

References (29)

1. Ackerman KG, Herron BJ, Vargas SO, Huang HL, Tevosian SG, Kochilas L, Rao C, Pober BR, Babiuk RP, Epstein JA, Greer JJ, Beier DR (2005) Fog2 is required for normal diaphragm and lung development in mice and humans. PLoS Genet 1:58-65
2. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248-249
3. Arceci RJ, King AA, Simon MC, Orkin SH, Wilson DB (1993) Mouse GATA-4: a retinoic acid-inducible GATA-binding transcription factor expressed in endodermally derived tissues and heart. Mol Cell Biol 13:2235-2246
4. Bouchard MF, Taniguchi H, Viger RS (2009) The effect of human GATA4 gene mutations on the activity of target gonadal promoters. J Mol Endocrinol 42:149-160
5. Brady PD, Srisupundit K, Devriendt K, Fryns JP, Deprest JA, Vermeesch JR (2011) Recent developments in the genetic factors underlying congenital diaphragmatic hernia. Fetal Diagn Ther 29:25-39
6. Castiglia L, Fichera M, Romano C, Galesi O, Grillo L, Sturnio M, Failla P (2005) Narrowing the candidate region for congenital diaphragmatic hernia in chromosome 15q26: contradictory results. Am J Hum Genet 77:892-894
7. Chen J, Bardes EE, Aronow BJ, Jegga AG (2009) ToppGene Suite for gene list enrichment analysis and candidate gene prioritization. Nucleic Acids Res 37 (Web Server issue):W305-W311
8. Cooper DN, Ball EV, Krawczak M (1998) The human gene mutation database. Nucleic Acids Res 26:285-287
9. Crispino JD, Lodish MB, Thurberg BL, Litovsky SH, Collins T, Molkentin JD, Orkin SH (2001) Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors. Genes Dev 15:839-844
10. Doi T, Sugimoto K, Puri P (2009) Prenatal retinoic acid up-regulates pulmonary gene expression of COUP-TFII, FOG2, and GATA4 in pulmonary hypoplasia. J Pediatr Surg 44:1933-1937
11. Ferrer-Costa C, Gelpi JL, Zamakola L, Parraga I, de la Cruz X, Orozco M (2005) PMUT: a web-based tool for the annotation of pathological mutations on proteins. Bioinformatics 21:3176-3178
12. Garg V, Kathiriya IS, Barnes R, Schluterman MK, King IN, Butler CA, Rothrock CR, Eapen RS, Hirayama-Yamada K, Joo K, Matsuoka R, Cohen JC, Srivastava D (2003) GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5. Nature 424:443-447
13. Holder AM, Klaassens M, Tibboel D, de Klein A, Lee B, Scott DA (2007) Genetic factors in congenital diaphragmatic hernia. Am J Hum Genet 80:825-845
14. Jay PY, Bielinska M, Erlich JM, Mannisto S, Pu WT, Heikinheimo M, Wilson DB (2007) Impaired mesenchymal cell function in Gata4 mutant mice leads to diaphragmatic hernias and primary lung defects. Dev Biol 301:602-614
15. Klaassens M, van Dooren M, Eussen HJ, Douben H, den Dekker AT, Lee C, Donahoe PK, Galjaard RJ, Goemaere N, de Krijger RR, Wouters C, Wauters J, Oostra BA, Tibboel D, de Klein A (2005) Congenital diaphragmatic hernia and chromosome 15q26: determination of a candidate region by use of fluorescent in situ hybridization and array-based comparative genomic hybridization. Am J Hum Genet 76:877-882
16. Kumar P, Henikoff S, Ng PC (2009) Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 4:1073-1081
17. Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25(14):1754-1760
18. Nemer G, Fadlalah F, Usta J, Nemer M, Dbaibo G, Obeid M, Bitar F (2006) A novel mutation in the GATA4 gene in patients with tetralogy of fallot. Hum Mutat 27:293-294
19. Pober BR, Russell MK, Ackerman KG (1993) Congenital diaphragmatic hernia overview. GeneReviews™ [Internet]. University of Washington, Seattle
20. Reamon-Buettner SM, Borlak J (2005) GATA4 zinc finger mutations as a molecular rationale for septation defects of the human heart. J Med Genet 42:e32
21. Reva B, Antipin Y, Sander C (2007) Determinants of protein function revealed by combinatorial entropy optimization. Genome Biol 8:R232
22. Scott DA (2007) Genetics of congenital diaphragmatic hernia. Semin Pediatr Surg 16:88-93
23. Shimokawa O, Miyake N, Yoshimura T, Sosonkina N, Harada N, Mizuguchi T, Kondoh S, Kishino T, Ohta T, Remco V, Takashima T, Kinoshita A, Yoshiura K, Niikawa N, Matsumoto N (2005) Molecular characterization of del(8)(p23.1p23.1) in a case of congenital diaphragmatic hernia. Am J Med Genet A 136A:49-51
24. Tranchevent LC, Barriot R, Yu S, Van Vooren S, Van Loo P, Coessens B, De Moor B, Aerts S, Moreau Y (2008) ENDEAVOUR update: a web resource for gene prioritization in multiple species. Nucleic Acids Res 36 (Web Server issue):W377-384
25. Wang K, Li MY, Hadley D, Liu R, Glessner J, Grant SFA, Hakonarson H, Bucan M (2007) PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17:1665-1674
26. Wang K, Li M, Hakonarson H (2010) ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38:e164
27. Wat MJ, Shchelochkov OA, Holder AM, Breman AM, Dagli A, Bacino C, Scaglia F, Zori RT, Cheung SW, Scott DA, Kang SHL (2009) Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia. Am J Med Genet A 149A:1661-1677
28. You LR, Takamoto N, Yu CT, Tanaka T, Kodama T, DeMayo FJ, Tsai SY, Tsai MJ (2005) Mouse lacking COUP-TFII as an animal model of Bochdalek-type congenital diaphragmatic hernia. P Natl Acad Sci USA 102:16351-16356
29. Yu L, Wynn J, Ma L, Guha S, Mychaliska GB, Crombleholme TM, Azarow KS, Lim FY, Chung DH, Potoka D, Warner BW, Buncher B, LeDuc CA, Costa K, Stolar C, Aspelund G, Arkovitz M, Chung WK (2012) De novo copy number variants are associated with congenital diaphragmatic hernia. J Med Genet 49:650-659