16q24.1 microdeletion in a premature newborn: Usefulness of array-based comparative genomic hybridization in persistent pulmonary hypertension of the newborn

Pediatric Critical Care Medicine

Volumn 12, Issue 6, 2011, Pages

  Zufferey, Flore ^a   Martinet, Danielle ^a   Osterheld, Maria Chiara ^b   Niel Bütschi, Florence ^a   Giannoni, Eric ^a   Schmutz, Nathalie Besuchet ^a   Xia, Zhilian ^e   Beckmann, Jacques S ^a,c   Shaw Smith, Charles ^d   Stankiewicz, Pawel ^e   Langston, Claire ^e   Fellmann, Florence ^a  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b UNIVERSITY INSTITUTE OF PATHOLOGY   (Switzerland)

^c UNIVERSITY OF LAUSANNE   (Switzerland)

^d WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

16q24.1; alveolar capillary dysplasia with misalignment of pulmonary veins; array based comparative genomic hybridization; neonate; persistent pulmonary hypertension of the newborn

Indexed keywords

DOPAMINE; FORKHEAD TRANSCRIPTION FACTOR; NITRIC OXIDE;

ARTICLE; ARTIFICIAL VENTILATION; AUTOPSY; CASE REPORT; CLINICAL EFFECTIVENESS; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL HEART MALFORMATION; GENE CLUSTER; GENE DELETION; GENETIC ANALYSIS; HEART RIGHT LEFT SHUNT; HUMAN; HYDRONEPHROSIS; KARYOTYPE; MALE; MULTIPLE MALFORMATION SYNDROME; NEWBORN; PREMATURITY; PRIORITY JOURNAL; PULMONARY HYPERTENSION;

EID: 81155137800     PISSN: 15297535     EISSN: 19473893     Source Type: Journal    
DOI: 10.1097/PCC.0b013e3182192c96     Document Type: Article

References (33)

1. Abman SH: Recent advances in the pathogenesis and treatment of persistent pulmonary hypertension of the newborn. Neonatology 2007; 91:283-290
2. Hageman JR, Adams MA, Gardner TH: Persistent pulmonary hypertension of the newborn. Trends in incidence, diagnosis, and management. Am J Dis Child 1984; 138: 592-595
3. Clement A, Nathan N, Epaud R, et al: Interstitial lung diseases in children. Orphanet J Rare Dis 2010; 5:22
4. Chelliah BP, Brown D, Cohen M, et al: Alveolar capillary dysplasia-A cause of persistent pulmonary hypertension unresponsive to a second course of extracorporeal membrane oxygenation. Pediatrics 1995; 96:1159-1161
5. Gutierrez C, Rodriguez A, Palenzuela S, et al: Congenital misalignment of pulmonary veins with alveolar capillary dysplasia causing persistent neonatal pulmonary hypertension: Report of two affected siblings. Pediatr Dev Pathol 2000; 3:271-276
6. Antao B, Samuel M, Kiely E, et al: Congenital alveolar capillary dysplasia and associated gastrointestinal anomalies. Fetal Pediatr Pathol 2006; 25:137-145
7. Sen P, Thakur N, Stockton DW, et al: Expanding the phenotype of alveolar capillary dysplasia (ACD). J Pediatr 2004; 145:646-651
8. Janney CG, Askin FB, Kuhn C 3rd: Congenital alveolar capillary dysplasia-An unusual cause of respiratory distress in the newborn. Am J Clin Pathol 1981; 76:722-727
9. Langston C: Misalignment of pulmonary veins and alveolar capillary dysplasia. Pediatr Pathol 1991; 11:163-170
10. Al-Hathlol K, Phillips S, Seshia MK, et al: Alveolar capillary dysplasia. Report of a case of prolonged life without extracorporeal membrane oxygenation (ECMO) and review of the literature. Early Hum Dev 2000; 57:85-94
11. Michalsky MP, Arca MJ, Groenman F, et al: Alveolar capillary dysplasia: A logical approach to a fatal disease. J Pediatr Surg 2005; 40:1100-1105
12. Lally KP, Breaux CW Jr: A second course of extracorporeal membrane oxygenation in the neonate-Is there a benefit? Surgery 1995; 117:175-178
13. Shankar V, Haque A, Johnson J, Pietsch J: Late presentation of alveolar capillary dysplasia in an infant. Pediatr Crit Care Med 2006; 7:177-179
14. Abdallah HI, Karmazin N, Marks LA: Late presentation of misalignment of lung vessels with alveolar capillary dysplasia. Crit Care Med 1993; 21:628-630
15. Ahmed S, Ackerman V, Faught P, et al: Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: Late presentation of alveolar capillary dysplasia. Pediatr Crit Care Med 2008; 9:e43-e46
16. Rabah R, Poulik JM: Congenital alveolar capillary dysplasia with misalignment of pulmonary veins associated with hypoplastic left heart syndrome. Pediatr Dev Pathol 2001; 4:167-174
17. Alameh J, Bachiri A, Devisme L, et al: Alveolar capillary dysplasia: A cause of persistent pulmonary hypertension of the newborn. Eur J Pediatr 2002; 161:262-266
18. Stankiewicz P, Sen P, Bhatt SS, et al: 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 2009; 84:780-791
19. Yu S, Shao L, Kilbride H, et al: Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. Am J Med Genet A 2010; 152A:1257-1262
20. Martinet D, Filges I, Besuchet Schmutz N, et al: Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patients. Am J Med Genet A 2008; 146A:2094-2102
21. Shaw-Smith C: Genetic factors in esophageal atresia, tracheo-esophageal fistula and the VACTERL association: Roles for FOXF1 and the 16q24.1 FOX transcription factor gene cluster, and review of the literature. Eur J Med Genet 2010; 53:6-13
22. Cassidy J, Smith J, Goldman A, et al: The incidence and characteristics of neonatal irreversible lung dysplasia. J Pediatr 2002; 141:426-428
23. Inwald D, Brown K, Gensini F, et al: Open lung biopsy in neonatal and paediatric patients referred for extracorporeal membrane oxygenation (ECMO). Thorax 2004; 59: 328-333
24. Jaklitsch MT, Linden BC, Braunlin EA, et al: Open-lung biopsy guides therapy in children. Ann Thorac Surg 2001; 71:1779-1785
25. Eulmesekian P, Cutz E, Parvez B, et al: Alveolar capillary dysplasia: A six-year single center experience. J Perinat Med 2005; 33: 347-352
26. Tibballs J, Chow CW: Incidence of alveolar capillary dysplasia in severe idiopathic persistent pulmonary hypertension of the newborn. J Paediatr Child Health 2002; 38: 397-400
27. Sebire NJ, Ramsay AD, Malone M: Histopathological features of open lung biopsies in children treated with extracorporeal membrane oxygenation (ECMO). Early Hum Dev 2005; 81:455-460
28. Ryan CA, Finer NN: Open lung biopsies in neonates on ECMO: Additional cases. Extracorporeal membrane oxygenation. J Pediatr Surg 1998; 33:1327-1328
29. Bond SJ, Lee DJ, Stewart DL, et al: Open lung biopsy in pediatric patients on extracorporeal membrane oxygenation. J Pediatr Surg 1996; 31:1376-1378
30. Manouvrier-Hanu S, Devisme L, Farre I, et al: Pulmonary hypertension of the newborn and urogenital anomalies in two male siblings: A new family with misalignment of pulmonary vessels. Genet Couns 1996; 7:249-255
31. Vassal HB, Malone M, Petros AJ, et al: Familial persistent pulmonary hypertension of the newborn resulting from misalignment of the pulmonary vessels (congenital alveolar capillary dysplasia). J Med Genet 1998; 35:58-60
32. Miller DT, Adam MP, Aradhya S, et al: Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 86:749-764
33. Greenway SC, Pereira AC, Lin JC, et al: De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat Genet 2009; 41:931-935