Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease

American Journal of Medical Genetics, Part A

Volumn 152, Issue 5, 2010, Pages 1257-1262

  Yu, Shihui ^a   Shao, Lei ^a   Kilbride, Howard ^a   Zwick, David L ^a  

^a UNIVERSITY OF MISSOURI KANSAS CITY SCHOOL OF MEDICINE   (United States)

Author keywords

aCGH; Deletion; FOXC2; FOXF1; Haploinsufficiency; Monosomy 16q24

Indexed keywords

INTERFERON CONSENSUS SEQUENCE BINDING PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXC2; TRANSCRIPTION FACTOR FOXF1; TRANSCRIPTION FACTOR FOXL1; UNCLASSIFIED DRUG;

ALVEOLAR CAPILLARY DYSPLASIA; AMINO ACID SEQUENCE; ARTICLE; AUTOPSY; CASE REPORT; CHROMOSOME 16Q; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART DISEASE; COR PULMONALE; GENE; GENETIC ASSOCIATION; HAPLOINSUFFICIENCY; HUMAN; HUMAN TISSUE; LUNG DYSPLASIA; MALE; MTHFSD GENE; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; PULMONARY HYPERTENSION; RESPIRATORY FAILURE;

CAPILLARIES; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; FATAL OUTCOME; FEMALE; FOLLOW-UP STUDIES; FORKHEAD TRANSCRIPTION FACTORS; GENE DOSAGE; HAPLOIDY; HEART DEFECTS, CONGENITAL; HUMANS; INFANT, NEWBORN; MALE; PARENTS; POLYMERASE CHAIN REACTION; PREGNANCY; PULMONARY ALVEOLI; REPRODUCIBILITY OF RESULTS;

EID: 77951725470     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33378     Document Type: Article

References (41)

1. Aitola M, Carlsson P, Mahlapuu M, Enerback S, Pelto-Huikko M. 2000. Forkhead transcription factor FoxF2 is expressed in mesodermal tissues involved in epithelio-mesenchymal interactions. Dev Dyn 218:136-149. (Pubitemid 30249757)
2. Bejjani BA, Shaffer LG. 2008. Clinical utility of contemporary molecular cytogenetics. Annu Rev Genomics Hum Genet 9:71-86.
3. Brice G. 2008. Perinatal diagnosis of a lymphoedema-distichiasis syndrome. Prenat Diagn 28:167.
4. Carter NP. 2007. Methods and strategies for analyzing copy number variation using DNA microarrays. Nat Genet 39:S16-S21. (Pubitemid 47014471)
5. Costa RH, Kalinichenko VV, Lim L. 2001. Transcription factors in mouse lung development and function. Am J Physiol Lung Cell Mol Physiol 280:L823-L838. (Pubitemid 32436045)
6. Dagenais SL, Hartsough RL, Erickson RP, Witte MH, Butler MG, Glover TW. 2004. Foxc2 is expressed in developing lymphatic vessels and other tissues associated with lymphedema-distichiasis syndrome. Gene Expr Patterns 4:611-619.
7. Evans JA, de von Flindt R, Greenberg C, Ramsay S, Hamerton JL. 1982. A cytogenetic survey of 14,069 newborn infants. IV. Further follow-up on the children with sex chromosome anomalies. Birth Defects Orig Artic Ser 18:169-184.
8. Fang J, Dagenais SL, Erickson RP, Arlt MF, Glynn MW, Gorski JL, Seaver LH, Glover TW. 2000. Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome. Am J Hum Genet 67:1382-1388.
9. Finegold DN, Kimak MA, Lawrence EC, Levinson KL, Cherniske EM, Pober BR, Dunlap JW, Ferrell RE. 2001. Truncating mutations in FOXC2 cause multiple lymphedema syndromes. Hum Mol Genet 10:1185-1189.
10. Fukuda K, Yoshida H, Sato T, Furumoto TA, Mizutani-Koseki Y, Suzuki Y, Saito Y, Takemori T, Kimura M, Sato H, Takemori T, Kimura M, Sato H, Taniguchi M, Nishikawa S, Nakayama T, Koseki H. 2003. Mesenchymal expression of Foxl1, a winged helix transcriptional factor, regulates generation and maintenance of gut-associated lymphoid organs. Dev Biol 255:278-289. (Pubitemid 36331949)
11. Hamvas A, Cole FS, Nogee LM. 2007. Genetic disorders of surfactant proteins. Neonatology 91:311-317.
12. Iida K, Koseki H, Kakinuma H, Kato N, Mizutani-Koseki Y, Ohuchi H, Yoshioka H, Noji S, Kawamura K, Kataoka Y, Ueno F, Taniguchi M, Yoshida N, Sugiyama T, Miura N. 1997. Essential roles of the winged helix transcription factor MFH-1 in aortic arch patterning and skeletogenesis. Development 124:4627-4638. (Pubitemid 27519257)
13. Itsara A, Cooper GM, Baker C, Girirajan S, Li J, Absher D, Krauss RM, Myers RM, Ridker PM, Chasman DI, Mefford H, Ying P, Nickerson DA, Eichler EE. 2009. Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet 84:148-161.
14. Kaestner KH, Silberg DG, Traber PG, Schutz G. 1997. The mesenchymal winged helix transcription factor Fkh6 is required for the control of gastrointestinal proliferation and differentiation. Genes Dev 11: 1583-1595. (Pubitemid 27274402)
15. Kaestner KH, Knochel W, Martinez DE. 2000. Unified nomenclature for the winged helix/forkhead transcription factors. Genes Dev 14:142-146. (Pubitemid 30070978)
16. Kalin TV, Meliton L, Meliton AY, Zhu X, Whitsett JA, Kalinichenko VV. 2008. Pulmonary mastocytosis and enhanced lung inflammation in mice heterozygous null for the Foxf1 gene. Am J Respir Cell Mol Biol 39: 390-399.
17. Kalinichenko VV, Lim L, Stolz DB, Shin B, Rausa FM, Clark J, Whitsett JA, Watkins SC, Costa RH. 2001. Defects in pulmonary vasculature and perinatal lung hemorrhage in mice heterozygous null for the Forkhead Box f1 transcription factor. Dev Biol 235:489-506. (Pubitemid 32661187)
18. Kriederman BM, Myloyde TL, Witte MH, Dagenais SL, Witte CL, Rennels M, Bernas MJ, Lynch MT, Erickson RP, Caulder MS, Miura N, Jackson D, Brooks BP, Glover TW. 2003. FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome. Hum Mol Genet 12:1179-1185. (Pubitemid 36622150)
19. Lim L, Kalinichenko VV, Whitsett JA, Costa RH. 2002. Fusion of lung lobes and vessels in mouse embryos heterozygous for the forkhead box f1 targeted allele. Am J Physiol Lung Cell Mol Physiol 282: L1012-L1022. (Pubitemid 34654618)
20. Lu XY, PhungMT,Shaw CA,PhamK, Neil SE, Patel A, Sahoo T, Bacino CA, Stankiewicz P, Kang SH, Lalani S, Chinault AC, Lupski JR, Cheung SW, Beaudet AL. 2008. Genomic imbalances in neonates with birth defects: High detection rates by using chromosomal microarray analysis. Pediatrics 122:1310-1318.
21. Madison BB, McKenna LB, Dolson D, Epstein DJ, Kaestner KH. 2009. FoxF1 and FoxL1 link hedgehog signaling and the control of epithelial proliferation in the developing stomach and intestine. J Biol Chem 284:5936-5944.
22. Mahlapuu M, Pelto-Huikko M, Aitola M, Enerback S, Carlsson P. 1998. FREAC-1 contains a cell-type-specific transcriptional activation domain and is expressed in epithelial-mesenchymal interfaces. Dev Biol 202: 183-195. (Pubitemid 28476311)
23. Mahlapuu M, Enerback S, Carlsson P. 2001a. Haploinsufficiency of the forkhead gene Foxf1, a target for sonic hedgehog signaling, causes lung and foregut malformations. Development 128:2397-2406. (Pubitemid 32633371)
24. Mahlapuu M, Ormestad M, Enerback S, Carlsson P. 2001b. The forkhead transcription factor Foxf1 is required for differentiation of extra-embryonic and lateral plate mesoderm. Development 128:155-166. (Pubitemid 32124142)
25. Mellor RH, Brice G, Stanton AW, French J, Smith A, Jeffery S, Levick JR, Burnand KG, Mortimer PS. 2007. Mutations in FOXC2 are strongly associated with primary valve failure in veins of the lower limb. Circulation 115:1912-1920. (Pubitemid 46598905)
26. Minino AM, Smith BL. 2001. Deaths: Preliminary data for 2000. Natl Vital Stat Rep 49:1-40.
27. Nussbaum R, McInnes RR, Sillard HF. 2007. Thompson & thompson genetics in medicine. Philadelphia, PA: Saunders Elsevier.
28. Papanicolaou KN, Izumiya Y, Walsh K. 2008. Forkhead transcription factors and cardiovascular biology. Circ Res 102:16-31.
29. Perl AK, Whitsett JA. 1999. Molecular mechanisms controlling lung morphogenesis. Clin Genet 56:14-27. (Pubitemid 29354007)
30. Petrova TV, Karpanen T, Norrmen C, Mellor R, Tamakoshi T, Finegold D, Ferrell R, Kerjaschki D, Mortimer P, Yla-Herttuala S, Miura N, Alitalo K. 2004. Defective valves and abnormal mural cell recruitment underlie lymphatic vascular failure in lymphedema distichiasis. Nat Med 10: 974-981. (Pubitemid 39273739)
31. Pinar H. 2004. Postmortem findings in term neonates. Semin Neonatol 9:289-302.
32. Rasmussen SA, Moore CA. 2001. Effective coding in birth defects surveillance. Teratology 64(Suppl.1): S3-S7. (Pubitemid 33032698)
33. Seashore MR. 1993. Chromosomal abnormalities in the newborn period. Semin Perinatol 17:312-317.
34. Shaikh TH, Gai X, Perin JC, Glessner JT, Xie H, Murphy K, O'Hara R, Casalunovo T, Conlin LK, D'Arcy M, Frackelton EC, Geiger EA, Haldeman-Englert C, Imielinski M, Kim CE, Medne L, Annaiah K, Bradfield JP, Dabaghyan E, Eckert A, Onyiah CC, Ostapenko S, Otieno FG, Santa E, Shaner JL, Skraban R, Smith RM, Elia J, Goldmuntz E, Spinner NB, Zackai EH, Chiavacci RM, Grundmeier R, Rappaport EF, Grant SF, White PS, Hakonarson H. 2009. High-resolution mapping and analysis of copy numbervariations in thehumangenome:Adata resource for clinical and research applications. Genome Res 19:1682-1690.
35. Shinawi M, Cheung SW. 2008. The arrayCGHand its clinical applications. Drug Discov Today 13:760-770.
36. Sholto-Douglas-Vernon C, Bell R, Brice G, Mansour S, Sarfarazi M, Child AH, Smith A, Mellor R, Burnand K, Mortimer P, Jeffery S. 2005. Lymphoedema-distichiasis and FOXC2: Unreported mutations, de novo mutation estimate, families without coding mutations. Hum Genet 117: 238-242. (Pubitemid 43136800)
37. Smith A, Bannatyne P, Russell P, Ellwood D, den Dulk G. 1990. Cytogenetic studies in perinatal death. Aust N Z J Obstet Gynaecol 30:206-210.
38. Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Bolivar J, Bauer M, Zackai EH, McDonald-McGinn D, Nowaczyk MM, Murray M, Hustead V, Mascotti K, Schultz R, Hallam L, McRae D, Nicholson AG, Newbury R, Durham-O'Donnell J, Knight G, Kini U, Shaikh TH, Martin V, Tyreman M, Simonic I, Willatt L, Paterson J, Mehta S, Rajan D, Fitzgerald T, Gribble S, Prigmore E, Patel A, Shaffer LG, Carter NP, Cheung SW, Langston C, Shaw-Smith C. 2009. Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet 84:780-791.
39. Winnier GE, Kume T, Deng K, Rogers R, Bundy J, Raines C, Walter MA, Hogan BL, Conway SJ. 1999. Roles for the winged helix transcription factors MF1 and MFH1 in cardiovascular development revealed by nonallelic noncomplementation of null alleles. Dev Biol 213:418-431. (Pubitemid 29444350)
40. YuS, BittelDC,Kibiryeva N, Zwick DL, Cooley LD. 2009a. Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis. Am J Clin Pathol 132:349-360.
41. Yu S, Kielt M, Stegner AL, Kibiryeva N, Bittel DC, Cooley LD. 2009b. Quantitative real-time polymerase chain reaction for the verification of genomic imbalances detected by microarray-based comparative genomic hybridization. Genet Test Mol Biomarkers 13:751-760.