A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

European Journal of Human Genetics

Volumn 21, Issue 4, 2013, Pages 474-477

  Sen, Partha ^a   Gerychova, Romana ^b   Janku, Petr ^b   Jezova, Marta ^b   Valaskova, Iveta ^b   Navarro, Colby ^b   Silva, Iris ^a   Langston, Claire ^a   Welty, Stephen ^c   Belmont, John ^a   Stankiewicz, Pawel ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY HOSPITAL BRNO   (Czech Republic)

^c TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

ACD MPV; angiogenesis; FOXF1; imprinting; lung development

Indexed keywords

DNA; FOXF1 PROTEIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ALVEOLAR CAPILLARY DYSPLASIA; ARTICLE; CHROMOSOME 16; CLINICAL ARTICLE; DNA DETERMINATION; FAMILIAL DISEASE; FEMALE; GENETIC DISORDER; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HUMAN TISSUE; MALE; MISALIGNMENT OF PULMONARY VEIN; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; PULMONARY VASCULAR DISEASE; PULMONARY VEIN MALFORMATION; SIBLING;

CHROMOSOMES, HUMAN, PAIR 16; FEMALE; FORKHEAD TRANSCRIPTION FACTORS; GENOMIC IMPRINTING; HAPLOTYPES; HUMANS; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PEDIGREE; PERSISTENT FETAL CIRCULATION SYNDROME; SIBLINGS;

EID: 84875050683     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.171     Document Type: Article

References (30)

1. Janney CG, Askin FB, Kuhn 3rd C: Congenital alveolar capillary dysplasia-anunusual cause of respiratory distress in the newborn. AmJ Clin Pathol 1981; 76: 722-727. (Pubitemid 11026281)
2. Langston C: Misalignment of pulmonary veins and alveolar capillary dysplasia. PediatrPathol 1991; 11: 163-170.
3. Sen P, Thakur N, Stockton DW, Langston C, Bejjani BA: Expanding the phenotype ofalveolar capillary dysplasia (ACD). J Pediatr 2004; 145: 646-651. (Pubitemid 39440944)
4. Boggs S, Harris MC, Hoffman DJ et al: Misalignment of pulmonary veins with alveolarcapillary dysplasia: affected siblings and variable phenotypic expression. J Pediatr1994; 124: 125-128. (Pubitemid 24027300)
5. Wagenvoort CA: Misalignment of lung vessels: a syndrome causing persistent neonatalpulmonary hypertension. Hum Pathol 1986; 17: 727-730. (Pubitemid 16070411)
6. Gutierrez C, Rodriguez A, Palenzuela S, Forteza C, Rossello JL: Congenital misalignmentof pulmonary veins with alveolar capillary dysplasia causing persistent neonatal pulmonaryhypertension: report of two affected siblings. Pediatr Dev Pathol 2000; 3: 271-276. (Pubitemid 30232853)
7. Shohet I, Reichman B, Schibi G, Brish M: Familial persistent pulmonary hypertension.Arch Dis Child 1984; 59: 783-785. (Pubitemid 14059470)
8. Manouvrier-Hanu S, Devisme L, Farre I et al: Pulmonary hypertension of the newbornand urogenital anomalies in two male siblings: a new family with misalignment ofpulmonary vessels. Genet Couns 1996; 7: 249-255. (Pubitemid 26421634)
9. Vassal HB, Malone M, Petros AJ, Winter RM: Familial persistent pulmonary hypertensionof the newborn resulting from misalignment of the pulmonary vessels (congenitalalveolar capillary dysplasia). J Med Genet 1998; 35: 58-60. (Pubitemid 28156494)
10. Al-Hathlol K, Phillips S, Seshia MK, Casiro O, Alvaro RE, Rigatto H: Alveolarcapillary dysplasia. Report of a case of prolonged life without extracorporealmembrane oxygenation (ECMO) and review of the literature. Early Hum Dev 2000;57: 85-94. (Pubitemid 30100525)
11. Plat G, Rouquette I, Marcoux MO, Bloom MC, Acar P, Dulac Y: [Alveolar capillarydysplasia and persistent pulmonary hypertension of the newborn]. Arch Mal CoeurVaiss 2007; 100: 458-461. (Pubitemid 47020387)
12. Kitayama Y, Kamata S, Okuyama H et al: Nitric oxide inhalation therapy for an infantwith persistent pulmonary hypertension caused by misalignment of pulmonary veinswith alveolar capillary dysplasia. J Pediatr Surg 1997; 32: 99-100. (Pubitemid 27057040)
13. Ahmed S, Ackerman V, Faught P, Langston C: Profound hypoxemia and pulmonaryhypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia.Pediatr Crit Care Med 2008; 9: e43-e46.
14. Eulmesekian P, Cutz E, Parvez B, Bohn D, Adatia I: Alveolar capillary dysplasia: a sixyearsingle center experience. J Perinat Med 2005; 33: 347-352. (Pubitemid 41205870)
15. Stankiewicz P, Sen P, Bhatt SS et al: Genomic and genic deletions of the FOX genecluster on 16q24. 1 and inactivating mutations of FOXF1 cause alveolar capillarydysplasia and other malformations. Am J Hum Genet 2009; 84: 780-791.
16. Mahlapuu M, Pelto-Huikko M, Aitola M, Enerback S, Carlsson P: FREAC-1 contains acell-type-specific transcriptional activation domain and is expressed in epithelialmesenchymalinterfaces. Dev Biol 1998; 202: 183-195. (Pubitemid 28476311)
17. Pierrou S, Hellqvist M, Samuelsson L, Enerback S, Carlsson P: Cloning andcharacterization of seven human forkhead proteins: binding site specificity and DNAbending. EMBO J 1994; 13: 5002-5012. (Pubitemid 24319383)
18. Adzhubei IA, Schmidt S, Peshkin L et al: A method and server for predicting damagingmissense mutations. Nat Methods 2010; 7: 248-249.
19. Mathe E, Olivier M, Kato S, Ishioka C, Hainaut P, Tavtigian SV: Computationalapproaches for predicting the biological effect of p53 missense mutations: acomparison of three sequence analysis based methods. Nucleic Acids Res 2006;34: 1317-1325.
20. Malin D, Kim IM, Boetticher E et al: Forkhead box F1 is essential for migration ofmesenchymal cells and directly induces integrin-beta3 expression. Mol Cell Biol2007; 27: 2486-2498. (Pubitemid 46581341)
21. Kalinichenko VV, Gusarova GA, Kim IM et al: Foxf1 haploinsufficiency reduces Notch-2 signaling during mouse lung development. Am J Physiol Lung Cell Mol Physiol2004; 286: L521-L530. (Pubitemid 38233623)
22. Kalinichenko VV, Zhou Y, Bhattacharyya D et al: Haploinsufficiency of the mouseForkhead Box f1 gene causes defects in gall bladder development. J Biol Chem2002;277: 12369-12374. (Pubitemid 34952809)
23. Yu S, Shao L, Kilbride H, Zwick DL: Haploinsufficiencies of FOXF1 and FOXC2 genesassociated with lethal alveolar capillary dysplasia and congenital heart disease. Am JMed Genet A 2010; 152A: 1257-1262.
24. Luedi PP, Dietrich FS, Weidman JR, Bosko JM, Jirtle RL, Hartemink AJ: Computationaland experimental identification of novel human imprinted genes. Genome Res 2007;17: 1723-1730. (Pubitemid 351359996)
25. Kohlhase J, Janssen B, Weidenauer K, Harms K, Bartels I: First confirmed case withpaternal uniparental disomy of chromosome 16. Am J Med Genet 2000; 91: 190-191. (Pubitemid 30165421)
26. Shaw-Smith C: Genetic factors in esophageal atresia, tracheo-esophageal fistula andthe VACTERL association: roles for FOXF1 and the 16q24. 1 FOX transcription factorgene cluster, and review of the literature. Eur J Med Genet 2010; 53: 6-13.
27. Borders Jr CL, Broadwater JA, Bekeny PA et al: A structural role for arginine in proteins:multiple hydrogen bonds to backbone carbonyl oxygens. Protein Sci 1994; 3: 541-548. (Pubitemid 24136359)
28. Chang VW, Ho Y: Structural characterization of the mouse Foxf1a gene. Gene 2001;267: 201-211. (Pubitemid 32324137)
29. Lee TF, Zhai J, Meyers BC: Conservation and divergence in eukaryotic DNAmethylation. Proc Natl Acad Sci USA 2010; 107: 9027-9028.
30. Su Z, Han L, Zhao Z: Conservation and divergence of DNA methylation in eukaryotes: newinsights from single base-resolution DNA methylomes. Epigenetics 2011; 6: 134-140.