Maternal somatic mosaicism of FOXF1 mutation causes recurrent alveolar capillary dysplasia with misalignment of pulmonary veins in siblings
Ho Ming Luk
Department of Health, Clinical Genetic Service, Hong Kong, China
Search for more papers by this authorTao Tang
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China
Search for more papers by this authorKwong Wai Richard Choy
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China
Search for more papers by this authorMing For Tony Tong
Department of Health, Clinical Genetic Service, Hong Kong, China
Search for more papers by this authorOn Kit Wong
Department of Pathology, Queen Elizabeth Hospital, Hong Kong, China
Search for more papers by this authorCorresponding Author
Fai Man Ivan Lo
Department of Health, Clinical Genetic Service, Hong Kong, China
Correspondence to:
Dr. Fai Man Ivan Lo, Clinical Genetic Service, Department of Health, Hong Kong SAR, China.
E-mail: [email protected]
Search for more papers by this authorHo Ming Luk
Department of Health, Clinical Genetic Service, Hong Kong, China
Search for more papers by this authorTao Tang
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China
Search for more papers by this authorKwong Wai Richard Choy
Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong, China
Search for more papers by this authorMing For Tony Tong
Department of Health, Clinical Genetic Service, Hong Kong, China
Search for more papers by this authorOn Kit Wong
Department of Pathology, Queen Elizabeth Hospital, Hong Kong, China
Search for more papers by this authorCorresponding Author
Fai Man Ivan Lo
Department of Health, Clinical Genetic Service, Hong Kong, China
Correspondence to:
Dr. Fai Man Ivan Lo, Clinical Genetic Service, Department of Health, Hong Kong SAR, China.
E-mail: [email protected]
Search for more papers by this author
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REFERENCES
- Cater G, Thibeault DW, Beatty EC, Kilbride HW, Huntrakoon M. 1989. Misalignment of lung vessels and alveolar capillary dysplasia: A cause of persistent pulmonary hypertension. J Pediatr 114: 293–300.
- Cullinane C, Cox PN, Silver MM. 1992. Persistent pulmonary hypertension of the newborn due to alveolar capillary dysplasia. Pediatr Pathol 12: 499–514.
- Hellqvist M, Mahlapuu M, Samuelsson L, Enerback S, Carlsson P. 1996. Differential activation of lung-specific genes by two forkhead proteins, FREAC-1 and FREAC-2. J Biol Chem 271: 4482–4490.
- 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.
- Malin D, Kim IM, Boetticher E, Kalin TV, Ramakrishna S, Meliton L, Ustiyan V, Zhu X, Kalinichenko VV. 2007. Forkhead box F1 box F1 is essential for migration of mesenchymal cells and directly induces integrin-beta3 expression. Mol Cell Biol 27: 2486–2498.
- Sen P, Thakur N, Stockton DW, Langston C, Bejjani BA. 2004. Expanding the phenotype of alveolar capillary dysplasia (ACD). J Pediatr 145: 646–651.
- Sen P, Gerychova R, Janku P, Jezova M, Valaskova I, Navarro C, Silva I, Langston C, Welty S, Belmont J, Stankiewicz P. 2013a. A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human. Eur J Hum Genet 21: 474–477.
- Sen P, Yang Y, Navarro C, Silva I, Szafranski P, Kolodziejska KE, Dharmadhikari AV, Mostafa H, Kozakewich H, Kearney D, Cahill JB, Whitt M, Bilic M, Margraf L, Charles A, Goldblatt J, Gibson K, Lantz PE, Garvin AJ, Petty J, Kiblawi Z, Zuppan C, McConkie-Rosell A, McDonald MT, Peterson-Carmichael SL, Gaede JT, Shivanna B, Schady D, Friedlich PS, Hays SR, Palafoll IV, Siebers-Renelt U, Bohring A, Finn LS, Siebert JR, Galambos C, Nguyen L, Riley M, Chassaing N, Vigouroux A, Rocha G, Fernandes S, Brumbaugh J, Roberts K, Ho-Ming L, Lo IF, Lam S, Gerychova R, Jezova M, Valaskova I, Fellmann F, Afshar K, Giannoni E, Muhlethaler V, Liang J, Beckmann JS, Lioy J, Deshmukh H, Srinivasan L, Swarr DT, Sloman M, Shaw-Smith C, van Loon RL, Hagman C, Sznajer Y, Barrea C, Galant C, Detaille T, Wambach JA, Cole FS, Hamvas A, Prince LS, Diderich KE, Brooks AS, Verdijk RM, Ravindranathan H, Sugo E, Mowat D, Baker ML, Langston C, Welty S, Stankiewicz P. 2013b. 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 34: 801–811.
- Stankiewicz P, Sen P, Bhatt SS, Storer M, Xia Z, Bejjani BA, Ou Z, Wiszniewska J, Driscoll DJ, Maisenbacher MK, 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.
- Szafranski P, Dharmadhikari AV, Brosens E, Gurha P, Kolodziejska KE, Zhishuo O, Dittwald P, Majewski T, Mohan KN, Chen B, Pearson RE, Tibboel D, de Klein A, Pinner J, Chopra M, Malcolm G, Peters G, Arbuckle S, Guiang SF, Hustead VA, Jessurun J, Hirsch R, Witte DP, Maystadt I, Sebire N, Fisher R, Langston C, Sen P, Stankiewicz P. 2013. Small non-coding differentially-methylated copy-number variants, including lncRNA genes, cause a lethal lung developmental disorder. Genome Res 23: 23–33.
- Szafranski P, Dharmadhikari AV, Wambach JA, Towe CT, White FV, Grady RM, Eghtesady P, Cole FS, Deutsch G, Sen P, Stankiewicz P. 2014. 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 A 164A: 2013–2019.
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