Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
SEN, Partha; Yaping YANG; Colby NAVARRO; Iris SILVA; Przemyslaw SZAFRANSKI 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
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SEN, Partha; Yaping YANG; Colby NAVARRO; Iris SILVA; Przemyslaw SZAFRANSKI; Katarzyna E KOLODZIEJSKA; Avinash V DHARMADHIKARI; Hasnaa MOSTAFA; Harry KOZAKEWICH; Debra KEARNEY; John B CAHILL; Merrissa WHITT; Masha BILIC; Linda MARGRAF; Adrian CHARLES; Jack GOLDBLATT; Kathleen GIBSON; Patrick E LANTZ; A Julian GARVIN; John PETTY; Zeina KIBLAWI; Craig ZUPPAN; Allyn MCCONKIE-ROSELL; Marie T MCDONALD; Stacey L PETERSON-CARMICHAEL; Jane T GAEDE; Binoy SHIVANNA; Deborah SCHADY; Philippe S FRIEDLICH; Stephen R HAYS; Irene Valenzuela PALAFOLL; Ulrike SIEBERS-RENELT; Axel BOHRING; Laura S FINN; Joseph R SIEBERT; Csaba GALAMBOS; Lananh NGUYEN; Melissa RILEY; Nicolas CHASSAING; Adeline VIGOUROUX; Gustavo ROCHA; Susana FERNANDES; Jane BRUMBAUGH; Kari ROBERTS; Ho-ming LUK; Ivan F M LO; Stephen LAM; Romana GERYCHOVÁ; Marta JEŽOVÁ; Iveta VALÁŠKOVÁ; Florence FELLMANN; Katayoun AFSHAR; Eric GIANNONI; Vincent MUHLETHALER; Jinlong LIANG; Jacques S BECKMANN; Janet LIOY; Hitesh DESHMUKH; Lakshmi SRINIVASAN; Daniel T SWARR; Melissa SLOMAN; Charles SHAW-SMITH; Rosa Laura van LOON; Cecilia HAGMAN; Yves SZNAJER; Catherine BARREA; Christine GALANT; Thierry DETAILLE; Jennifer A WAMBACH; F Sessions COLE; Aaron HAMVAS; Lawrence S PRINCE; Karin E M DIDERICH; Alice S BROOKS; Robert M VERDIJK; Hari RAVINDRANATHAN; Ella SUGO; David MOWAT; Michael L BAKER; Claire LANGSTON; Stephen WELTY a Pawel STANKIEWICZ
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Human Mutation, HOBOKEN, WILEY-BLACKWELL, 2013, 1059-7794
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA-binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.
SEN, Partha; Yaping YANG; Colby NAVARRO; Iris SILVA; Przemyslaw SZAFRANSKI; Katarzyna E KOLODZIEJSKA; Avinash V DHARMADHIKARI; Hasnaa MOSTAFA; Harry KOZAKEWICH; Debra KEARNEY; John B CAHILL; Merrissa WHITT; Masha BILIC; Linda MARGRAF; Adrian CHARLES; Jack GOLDBLATT; Kathleen GIBSON; Patrick E LANTZ; A Julian GARVIN; John PETTY; Zeina KIBLAWI; Craig ZUPPAN; Allyn MCCONKIE-ROSELL; Marie T MCDONALD; Stacey L PETERSON-CARMICHAEL; Jane T GAEDE; Binoy SHIVANNA; Deborah SCHADY; Philippe S FRIEDLICH; Stephen R HAYS; Irene Valenzuela PALAFOLL; Ulrike SIEBERS-RENELT; Axel BOHRING; Laura S FINN; Joseph R SIEBERT; Csaba GALAMBOS; Lananh NGUYEN; Melissa RILEY; Nicolas CHASSAING; Adeline VIGOUROUX; Gustavo ROCHA; Susana FERNANDES; Jane BRUMBAUGH; Kari ROBERTS; Ho-ming LUK; Ivan F M LO; Stephen LAM; Romana GERYCHOVÁ; Marta JEŽOVÁ; Iveta VALÁŠKOVÁ; Florence FELLMANN; Katayoun AFSHAR; Eric GIANNONI; Vincent MUHLETHALER; Jinlong LIANG; Jacques S BECKMANN; Janet LIOY; Hitesh DESHMUKH; Lakshmi SRINIVASAN; Daniel T SWARR; Melissa SLOMAN; Charles SHAW-SMITH; Rosa Laura van LOON; Cecilia HAGMAN; Yves SZNAJER; Catherine BARREA; Christine GALANT; Thierry DETAILLE; Jennifer A WAMBACH; F Sessions COLE; Aaron HAMVAS; Lawrence S PRINCE; Karin E M DIDERICH; Alice S BROOKS; Robert M VERDIJK; Hari RAVINDRANATHAN; Ella SUGO; David MOWAT; Michael L BAKER; Claire LANGSTON; Stephen WELTY a Pawel STANKIEWICZ. Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain. Human Mutation. HOBOKEN: WILEY-BLACKWELL, 2013, roč. 34, č. 6, s. 801-811. ISSN 1059-7794. Dostupné z: https://doi.org/10.1002/humu.22313.
@article{1117930, author = {Sen, Partha and Yang, Yaping and Navarro, Colby and Silva, Iris and Szafranski, Przemyslaw and Kolodziejska, Katarzyna E and Dharmadhikari, Avinash V and Mostafa, Hasnaa and Kozakewich, Harry and Kearney, Debra and Cahill, John B and Whitt, Merrissa and Bilic, Masha and Margraf, Linda and Charles, Adrian and Goldblatt, Jack and Gibson, Kathleen and Lantz, Patrick E and Garvin, A Julian and Petty, John and Kiblawi, Zeina and Zuppan, Craig and McConkieandRosell, Allyn and McDonald, Marie T and PetersonandCarmichael, Stacey L and Gaede, Jane T and Shivanna, Binoy and Schady, Deborah and Friedlich, Philippe S and Hays, Stephen R and Palafoll, Irene Valenzuela and SiebersandRenelt, Ulrike and Bohring, Axel and Finn, Laura S and Siebert, Joseph R and Galambos, Csaba and Nguyen, Lananh and Riley, Melissa and Chassaing, Nicolas and Vigouroux, Adeline and Rocha, Gustavo and Fernandes, Susana and Brumbaugh, Jane and Roberts, Kari and Luk, Hoandming and Lo, Ivan F M and Lam, Stephen and Gerychová, Romana and Ježová, Marta and Valášková, Iveta and Fellmann, Florence and Afshar, Katayoun and Giannoni, Eric and Muhlethaler, Vincent and Liang, Jinlong and Beckmann, Jacques S and Lioy, Janet and Deshmukh, Hitesh and Srinivasan, Lakshmi and Swarr, Daniel T and Sloman, Melissa and ShawandSmith, Charles and Loon, Rosa Laura van and Hagman, Cecilia and Sznajer, Yves and Barrea, Catherine and Galant, Christine and Detaille, Thierry and Wambach, Jennifer A and Cole, F Sessions and Hamvas, Aaron and Prince, Lawrence S and Diderich, Karin E M and Brooks, Alice S and Verdijk, Robert M and Ravindranathan, Hari and Sugo, Ella and Mowat, David and Baker, Michael L and Langston, Claire and Welty, Stephen and Stankiewicz, Pawel}, article_location = {HOBOKEN}, article_number = {6}, doi = {https://doi.org/10.1002/humu.22313}, keywords = {lung; development; angiogenesis; ACD/MPV; FOXF1; imprinting}, language = {eng}, issn = {1059-7794}, journal = {Human Mutation}, title = {Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain}, volume = {34}, year = {2013} }
TY - JOUR ID - 1117930 AU - Sen, Partha - Yang, Yaping - Navarro, Colby - Silva, Iris - Szafranski, Przemyslaw - Kolodziejska, Katarzyna E - Dharmadhikari, Avinash V - Mostafa, Hasnaa - Kozakewich, Harry - Kearney, Debra - Cahill, John B - Whitt, Merrissa - Bilic, Masha - Margraf, Linda - Charles, Adrian - Goldblatt, Jack - Gibson, Kathleen - Lantz, Patrick E - Garvin, A Julian - Petty, John - Kiblawi, Zeina - Zuppan, Craig - McConkie-Rosell, Allyn - McDonald, Marie T - Peterson-Carmichael, Stacey L - Gaede, Jane T - Shivanna, Binoy - Schady, Deborah - Friedlich, Philippe S - Hays, Stephen R - Palafoll, Irene Valenzuela - Siebers-Renelt, Ulrike - Bohring, Axel - Finn, Laura S - Siebert, Joseph R - Galambos, Csaba - Nguyen, Lananh - Riley, Melissa - Chassaing, Nicolas - Vigouroux, Adeline - Rocha, Gustavo - Fernandes, Susana - Brumbaugh, Jane - Roberts, Kari - Luk, Ho-ming - Lo, Ivan F M - Lam, Stephen - Gerychová, Romana - Ježová, Marta - Valášková, Iveta - Fellmann, Florence - Afshar, Katayoun - Giannoni, Eric - Muhlethaler, Vincent - Liang, Jinlong - Beckmann, Jacques S - Lioy, Janet - Deshmukh, Hitesh - Srinivasan, Lakshmi - Swarr, Daniel T - Sloman, Melissa - Shaw-Smith, Charles - Loon, Rosa Laura van - Hagman, Cecilia - Sznajer, Yves - Barrea, Catherine - Galant, Christine - Detaille, Thierry - Wambach, Jennifer A - Cole, F Sessions - Hamvas, Aaron - Prince, Lawrence S - Diderich, Karin E M - Brooks, Alice S - Verdijk, Robert M - Ravindranathan, Hari - Sugo, Ella - Mowat, David - Baker, Michael L - Langston, Claire - Welty, Stephen - Stankiewicz, Pawel PY - 2013 TI - Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain JF - Human Mutation VL - 34 IS - 6 SP - 801-811 EP - 801-811 PB - WILEY-BLACKWELL SN - 10597794 KW - lung KW - development KW - angiogenesis KW - ACD/MPV KW - FOXF1 KW - imprinting N2 - Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA-binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis. ER -
SEN, Partha; Yaping YANG; Colby NAVARRO; Iris SILVA; Przemyslaw SZAFRANSKI; Katarzyna E KOLODZIEJSKA; Avinash V DHARMADHIKARI; Hasnaa MOSTAFA; Harry KOZAKEWICH; Debra KEARNEY; John B CAHILL; Merrissa WHITT; Masha BILIC; Linda MARGRAF; Adrian CHARLES; Jack GOLDBLATT; Kathleen GIBSON; Patrick E LANTZ; A Julian GARVIN; John PETTY; Zeina KIBLAWI; Craig ZUPPAN; Allyn MCCONKIE-ROSELL; Marie T MCDONALD; Stacey L PETERSON-CARMICHAEL; Jane T GAEDE; Binoy SHIVANNA; Deborah SCHADY; Philippe S FRIEDLICH; Stephen R HAYS; Irene Valenzuela PALAFOLL; Ulrike SIEBERS-RENELT; Axel BOHRING; Laura S FINN; Joseph R SIEBERT; Csaba GALAMBOS; Lananh NGUYEN; Melissa RILEY; Nicolas CHASSAING; Adeline VIGOUROUX; Gustavo ROCHA; Susana FERNANDES; Jane BRUMBAUGH; Kari ROBERTS; Ho-ming LUK; Ivan F M LO; Stephen LAM; Romana GERYCHOVÁ; Marta JEŽOVÁ; Iveta VALÁŠKOVÁ; Florence FELLMANN; Katayoun AFSHAR; Eric GIANNONI; Vincent MUHLETHALER; Jinlong LIANG; Jacques S BECKMANN; Janet LIOY; Hitesh DESHMUKH; Lakshmi SRINIVASAN; Daniel T SWARR; Melissa SLOMAN; Charles SHAW-SMITH; Rosa Laura van LOON; Cecilia HAGMAN; Yves SZNAJER; Catherine BARREA; Christine GALANT; Thierry DETAILLE; Jennifer A WAMBACH; F Sessions COLE; Aaron HAMVAS; Lawrence S PRINCE; Karin E M DIDERICH; Alice S BROOKS; Robert M VERDIJK; Hari RAVINDRANATHAN; Ella SUGO; David MOWAT; Michael L BAKER; Claire LANGSTON; Stephen WELTY a Pawel STANKIEWICZ. Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain. \textit{Human Mutation}. HOBOKEN: WILEY-BLACKWELL, 2013, roč.~34, č.~6, s.~801-811. ISSN~1059-7794. Dostupné z: https://doi.org/10.1002/humu.22313.