Novel FOXF1 Mutations in Sporadic and Familial Cases of
Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins
Imply a Role for its DNA Binding Domain

J 2013

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.

Základní údaje

Originální název

Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

Autoři

SEN, Partha (840 Spojené státy), Yaping YANG (840 Spojené státy), Colby NAVARRO (840 Spojené státy), Iris SILVA (840 Spojené státy), Przemyslaw SZAFRANSKI (840 Spojené státy), Katarzyna E KOLODZIEJSKA (840 Spojené státy), Avinash V DHARMADHIKARI (840 Spojené státy), Hasnaa MOSTAFA (840 Spojené státy), Harry KOZAKEWICH (840 Spojené státy), Debra KEARNEY (840 Spojené státy), John B CAHILL (840 Spojené státy), Merrissa WHITT (840 Spojené státy), Masha BILIC (840 Spojené státy), Linda MARGRAF (840 Spojené státy), Adrian CHARLES (36 Austrálie), Jack GOLDBLATT (36 Austrálie), Kathleen GIBSON (840 Spojené státy), Patrick E LANTZ (840 Spojené státy), A Julian GARVIN (840 Spojené státy), John PETTY (840 Spojené státy), Zeina KIBLAWI (840 Spojené státy), Craig ZUPPAN (840 Spojené státy), Allyn MCCONKIE-ROSELL (840 Spojené státy), Marie T MCDONALD (840 Spojené státy), Stacey L PETERSON-CARMICHAEL (840 Spojené státy), Jane T GAEDE (840 Spojené státy), Binoy SHIVANNA (840 Spojené státy), Deborah SCHADY (840 Spojené státy), Philippe S FRIEDLICH (840 Spojené státy), Stephen R HAYS (840 Spojené státy), Irene Valenzuela PALAFOLL (724 Španělsko), Ulrike SIEBERS-RENELT (276 Německo), Axel BOHRING (276 Německo), Laura S FINN (840 Spojené státy), Joseph R SIEBERT (840 Spojené státy), Csaba GALAMBOS (840 Spojené státy), Lananh NGUYEN (840 Spojené státy), Melissa RILEY (840 Spojené státy), Nicolas CHASSAING (250 Francie), Adeline VIGOUROUX (250 Francie), Gustavo ROCHA (620 Portugalsko), Susana FERNANDES (620 Portugalsko), Jane BRUMBAUGH (840 Spojené státy), Kari ROBERTS (840 Spojené státy), Ho-ming LUK (156 Čína), Ivan F M LO (156 Čína), Stephen LAM (156 Čína), Romana GERYCHOVÁ (203 Česká republika, garant, domácí), Marta JEŽOVÁ (203 Česká republika, domácí), Iveta VALÁŠKOVÁ (203 Česká republika, domácí), Florence FELLMANN (756 Švýcarsko), Katayoun AFSHAR (756 Švýcarsko), Eric GIANNONI (756 Švýcarsko), Vincent MUHLETHALER (756 Švýcarsko), Jinlong LIANG (156 Čína), Jacques S BECKMANN (756 Švýcarsko), Janet LIOY (840 Spojené státy), Hitesh DESHMUKH (840 Spojené státy), Lakshmi SRINIVASAN (840 Spojené státy), Daniel T SWARR (840 Spojené státy), Melissa SLOMAN (826 Velká Británie a Severní Irsko), Charles SHAW-SMITH (826 Velká Británie a Severní Irsko), Rosa Laura van LOON (528 Nizozemské království), Cecilia HAGMAN (752 Švédsko), Yves SZNAJER (56 Belgie), Catherine BARREA (56 Belgie), Christine GALANT (56 Belgie), Thierry DETAILLE (56 Belgie), Jennifer A WAMBACH (840 Spojené státy), F Sessions COLE (840 Spojené státy), Aaron HAMVAS (840 Spojené státy), Lawrence S PRINCE (840 Spojené státy), Karin E M DIDERICH (528 Nizozemské království), Alice S BROOKS (528 Nizozemské království), Robert M VERDIJK (528 Nizozemské království), Hari RAVINDRANATHAN (36 Austrálie), Ella SUGO (36 Austrálie), David MOWAT (36 Austrálie), Michael L BAKER (840 Spojené státy), Claire LANGSTON (840 Spojené státy), Stephen WELTY (840 Spojené státy) a Pawel STANKIEWICZ (840 Spojené státy)

Vydání

Human Mutation, HOBOKEN, WILEY-BLACKWELL, 2013, 1059-7794

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

Genetika a molekulární biologie

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 5.122

Kód RIV

RIV/00216224:14110/13:00068946

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1002/humu.22313

UT WoS

000319278500001

Klíčová slova anglicky

lung; development; angiogenesis; ACD/MPV; FOXF1; imprinting

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 28. 4. 2014 17:27, Ing. Mgr. Věra Pospíšilíková

Anotace

V originále

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.

Citovat

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://dx.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 = {http://dx.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://dx.doi.org/10.1002/humu.22313.

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