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 (author)

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

Article/chapterEnglish2013

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2013-04-12
Hindawi Limited,2013

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LIBRIS-ID:oai:lup.lub.lu.se:9c8c845f-c972-4886-9b79-ff3bb1043fe3
https://lup.lub.lu.se/record/3931483URI
https://doi.org/10.1002/humu.22313DOI

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Language:English
Summary in:English

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SwePubSwePub

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Subject category:art swepub-publicationtype
Subject category:ref swepub-contenttype

Notes

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.

Subject headings and genre

MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Medicinsk genetik hsv//swe
MEDICAL AND HEALTH SCIENCES Basic Medicine Medical Genetics hsv//eng
lung
development
angiogenesis
ACD/MPV
FOXF1
imprinting

Added entries (persons, corporate bodies, meetings, titles ...)

Yang, Yaping (author)
Navarro, Colby (author)
Silva, Iris (author)
Szafranski, Przemyslaw (author)
Kolodziejska, Katarzyna E. (author)
Dharmadhikari, Avinash V. (author)
Mostafa, Hasnaa (author)
Kozakewich, Harry (author)
Kearney, Debra (author)
Cahill, John B. (author)
Whitt, Merrissa (author)
Bilic, Masha (author)
Margraf, Linda (author)
Charles, Adrian (author)
Goldblatt, Jack (author)
Gibson, Kathleen (author)
Lantz, Patrick E. (author)
Garvin, A. Julian (author)
Petty, John (author)
Kiblawi, Zeina (author)
Zuppan, Craig (author)
McConkie-Rosell, Allyn (author)
McDonald, Marie T. (author)
Peterson-Carmichael, Stacey L. (author)
Gaede, Jane T. (author)
Shivanna, Binoy (author)
Schady, Deborah (author)
Friedlich, Philippe S. (author)
Hays, Stephen R. (author)
Palafoll, Irene Valenzuela (author)
Siebers-Renelt, Ulrike (author)
Bohring, Axel (author)
Finn, Laura S. (author)
Siebert, Joseph R. (author)
Galambos, Csaba (author)
Nguyen, Lananh (author)
Riley, Melissa (author)
Chassaing, Nicolas (author)
Vigouroux, Adeline (author)
Rocha, Gustavo (author)
Fernandes, Susana (author)
Brumbaugh, Jane (author)
Roberts, Kari (author)
Luk, Ho-ming (author)
Lo, Ivan F. M. (author)
Lam, Stephen (author)
Gerychova, Romana (author)
Jezova, Marta (author)
Valaskova, Iveta (author)
Fellmann, Florence (author)
Afshar, Katayoun (author)
Giannoni, Eric (author)
Muhlethaler, Vincent (author)
Liang, Jinlong (author)
Beckmann, Jacques S. (author)
Lioy, Janet (author)
Deshmukh, Hitesh (author)
Srinivasan, Lakshmi (author)
Swarr, Daniel T. (author)
Sloman, Melissa (author)
Shaw-Smith, Charles (author)
van Loon, Rosa Laura (author)
Hagman, CeciliaLund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)med-cha (author)
Sznajer, Yves (author)
Barrea, Catherine (author)
Galant, Christine (author)
Detaille, Thierry (author)
Wambach, Jennifer A. (author)
Cole, F. Sessions (author)
Hamvas, Aaron (author)
Prince, Lawrence S. (author)
Diderich, Karin E. M. (author)
Brooks, Alice S. (author)
Verdijk, Robert M. (author)
Ravindranathan, Hari (author)
Sugo, Ella (author)
Mowat, David (author)
Baker, Michael L. (author)
Langston, Claire (author)
Welty, Stephen (author)
Stankiewicz, Pawel (author)
Pediatrik, LundSektion V (creator_code:org_t)

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In:Human Mutation: Hindawi Limited34:6, s. 801-8111059-7794

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By the author/editor: Sen, Partha; Yang, Yaping; Navarro, Colby; Silva, Iris; Szafranski, Prze ...; Kolodziejska, Ka ...; show more...; Dharmadhikari, A ...; Mostafa, Hasnaa; Kozakewich, Harr ...; Kearney, Debra; Cahill, John B.; Whitt, Merrissa; Bilic, Masha; Margraf, Linda; Charles, Adrian; Goldblatt, Jack; Gibson, Kathleen; Lantz, Patrick E ...; Garvin, A. Julia ...; Petty, John; Kiblawi, Zeina; Zuppan, Craig; McConkie-Rosell, ...; McDonald, Marie ...; Peterson-Carmich ...; Gaede, Jane T.; Shivanna, Binoy; Schady, Deborah; Friedlich, Phili ...; Hays, Stephen R.; Palafoll, Irene ...; Siebers-Renelt, ...; Bohring, Axel; Finn, Laura S.; Siebert, Joseph ...; Galambos, Csaba; Nguyen, Lananh; Riley, Melissa; Chassaing, Nicol ...; Vigouroux, Adeli ...; Rocha, Gustavo; Fernandes, Susan ...; Brumbaugh, Jane; Roberts, Kari; Luk, Ho-ming; Lo, Ivan F. M.; Lam, Stephen; Gerychova, Roman ...; Jezova, Marta; Valaskova, Iveta; Fellmann, Floren ...; Afshar, Katayoun; Giannoni, Eric; Muhlethaler, Vin ...; Liang, Jinlong; Beckmann, Jacque ...; Lioy, Janet; Deshmukh, Hitesh; Srinivasan, Laks ...; Swarr, Daniel T.; Sloman, Melissa; Shaw-Smith, Char ...; van Loon, Rosa L ...; Hagman, Cecilia; Sznajer, Yves; Barrea, Catherin ...; Galant, Christin ...; Detaille, Thierr ...; Wambach, Jennife ...; Cole, F. Session ...; Hamvas, Aaron; Prince, Lawrence ...; Diderich, Karin ...; Brooks, Alice S.; Verdijk, Robert ...; Ravindranathan, ...; Sugo, Ella; Mowat, David; Baker, Michael L ...; Langston, Claire; Welty, Stephen; Stankiewicz, Paw ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Medical Genetics

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