Variable phenotypic presentation of a novel FOXF1 missense mutation in a single family

Pediatric Pulmonology

Volumn 51, Issue 9, 2016, Pages 921-927

  Reiter, Joel ^a   Szafranski, Przemyslaw ^b   Breuer, Oded ^a   Perles, Zeev ^a   Dagan, Tamir ^c   Stankiewicz, Paweł ^b   Kerem, Eitan ^a  

^a HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

Author keywords

alveolar capillary dysplasia with misalignment of the pulmonary veins; childhood interstitial lung disease (chILD); pulmonary arterial hypertension

Indexed keywords

BOSENTAN; PREDNISONE; PROSTACYCLIN; SILDENAFIL;

AGENESIS; ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEIN; ARTICLE; ARTIFICIAL VENTILATION; CASE REPORT; CESAREAN SECTION; CHILD; CRACKLE; CYANOSIS; DYSPNEA; ECHOCARDIOGRAPHY; FEMALE; FOXF1 GENE; GENE; HEART CATHETERIZATION; HEART RIGHT VENTRICLE HYPERTROPHY; HEART VENTRICLE FILLING; HIGH RESOLUTION COMPUTER TOMOGRAPHY; HUMAN; HYPOXEMIA; INTUBATION; LUNG AUSCULTATION; LUNG DYSPLASIA; MISSENSE MUTATION; OXYGEN SATURATION; PANCREAS DISEASE; PANCREATIC AGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PULMONARY HYPERTENSION; PULMONARY VEIN MALFORMATION; RESPIRATORY DISTRESS; TERTIARY CARE CENTER; THORAX RADIOGRAPHY; TRICUSPID VALVE REGURGITATION;

EID: 84982274475     PISSN: 87556863     EISSN: 10990496     Source Type: Journal    
DOI: 10.1002/ppul.23425     Document Type: Article

References (23)

1. Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, et al. Novel FOXF1 mutations in sporadic and familial cases of alveolar capillary dysplasia with misaligned pulmonary veins imply a role for its DNA binding domain. Hum Mutat 2013; 34:801–811.
2. Bishop NB, Stankiewicz P, Steinhorn RH. Alveolar capillary dysplasia. Am J Respir Crit Care Med 2011; 184:172–179.
3. Dharmadhikari AV, Kalinichenko VV, Stankiewicz P. Genomic and epigenetic complexity of the FOXF1 locus in 16q24.1: implications for development and disease. Curr Genomics 2015; 16:107–116.
4. Kurland G, Deterding RR, Hagood JS, Young LR, Brody AS, Castile RG, Dell S, Fan LL, Hamvas A, Hilman BC, et al. An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy. Am J Respir Crit Care Med 2013; 188:376–394.
5. Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, 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.
6. 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.
7. Ahmed S, Ackerman V, Faught P, Langston C. Profound hypoxemia and pulmonary hypertension in a 7-month-old infant: late presentation of alveolar capillary dysplasia. Pediatr Crit Care Med 2008; 9:43–46.
8. Szafranski P, Dharmadhikari AV, Wambach JA, Towe CT, White FV, Grady RM, Eghtesady P, Cole FS, Deutsch G, Sen P, et al. Two deletions overlapping a distant FOXF1 enhancer unravel the role of lncRNA LINC01081 in etiology of alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet Part A 2014; 164A:2013–2019.
9. Licht C, Schickendantz S, Sreeram N, Arnold G, Rossi R, Vierzig A, Mennicken U, Roth B. Prolonged survival in alveolar capillary dysplasia syndrome. Eur J Pediatr 2004; 163:181–182.
10. Ito Y, Akimoto T, Cho K, Yamada M, Tanino M, Dobata T, Kitaichi M, Kumaki S, Kinugawa Y. A late presenter and long-term survivor of alveolar capillary dysplasia with misalignment of the pulmonary veins. Eur J Pediatr 2015; 174:1123–1126.
11. Chang VW, Ho Y. Structural characterization of the mouse Foxf1a gene. Gene 2001; 267:201–211.
12. Sen P, Gerychova R, Janku P, Jezova M, Valaskova I, Navarro C, Silva I, Langston C, Welty S, Belmont J, et al. A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. Eur J Hum Genet 2013; 21:474–477.
13. Szafranski P, Dharmadhikari AV, Brosens E, Gurha P, Kolodziejska KE, Zhishuo O, Dittwald P, Majewski T, Mohan KN, Chen B, et al. Small noncoding differentially methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Res 2013; 23:23–33.
14. Sen P, Dharmadhikari AV, Majewski T, Mohammad MA, Kalin TV, Zabielska J, Ren X, Bray M, Brown HM, Welty S, et al. Comparative analyses of lung transcriptomes in patients with alveolar capillary dysplasia with misalignment of pulmonary veins and in Foxf1 heterozygous knockout mice. PLoS ONE 2014; 9:94390.
15. Szafranski P, Gambin T, Dharmadhikari AV, Akdemir KC, Jhangiani SN, Schuette J, Godiwala N, Yatsenko SA, Sebastian J, Madan-Khetarpal S, et al. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet (in press).
16. Coon DR, Roberts DJ, Loscertales M, Kradin R. Differential epithelial expression of SHH and FOXF1 in usual and nonspecific interstitial pneumonia. Exp Mol Pathol 2006; 80:119–123.
17. Bush A, Cunningham S, de Blic J, Barbato A, Clement A, Epaud R, Hengst M, Kiper N, Nicholson AG, Wetzke M, et al. European protocols for the diagnosis and initial treatment of interstitial lung disease in children. Thorax 2015; 70:1078–1084.
18. Ren X, Ustiyan V, Pradhan A, Cai Y, Havrilak JA, Bolte CS, Shannon JM, Kalin TV, Kalinichenko VV. FOXF1 transcription factor is required for formation of embryonic vasculature by regulating VEGF signaling in endothelial cells. Circ Res 2014; 115:709–720.
19. LOVD-team bwCv. Available from: https://grenada.lumc.nl/LOVD2/mendelian_genes/variants.php?select_db=FOXF1&action=search_all&search_Variant%2FDNA=c.1031_1032del. Updated July 2 2013. Accessed 17 Aug 2015.
20. Joza S, Wang J, Fox E, Hillman V, Ackerley C, Post M. Loss of semaphorin-neuropilin-1 signaling causes dysmorphic vascularization reminiscent of alveolar capillary dysplasia. Am J Pathol 2012; 181:2003–2017.
21. Degenhardt K, Singh MK, Aghajanian H, Massera D, Wang Q, Li J, Li L, Choi C, Yzaguirre AD, Francey LJ, et al. Semaphorin 3d signaling defects are associated with anomalous pulmonary venous connections. Nat Med 2013; 19:760–765.
22. Prothro SL, Plosa E, Markham M, Szafranski P, Stankiewicz P, Killen SA. Prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins. J Pediatr 2016; 170:317–318.
23. Parris T, Nik AM, Kotecha S, Langston C, Helou K, Platt C, Carlsson P. Inversion upstream of FOXF1 in a case of lethal alveolar capillary dysplasia with misalignment of pulmonary veins. Am J Med Genet A 2013; 161A:764–770.