Filamin A Mutation May Be Associated With Diffuse Lung Disease Mimicking Bronchopulmonary Dysplasia in Premature Newborns

References

1. 1.↵
   1. Deutsch GH,
   2. Young LR,
   3. Deterding RR,
   4. Fan LL,
   5. Dell SD,
   6. Bean JA,
   7. et al

   . Diffuse lung disease in young children: application of a novel classification scheme. Am J Respir Crit Care Med 2007;176(11):1120–1128.

   OpenUrlCrossRefPubMedWeb of Science
2. 2.↵
   1. Dishop MK

   . Paediatric lung disease: classification and definitions. Paediatr Respir Rev 2011;12(4):230–237.

   OpenUrlPubMed
3. 3.↵
   1. Stoll BJ,
   2. Hansen NI,
   3. Bell EF,
   4. Shankaran S,
   5. Laptook AR,
   6. Walsh MC,
   7. et al

   . Neonatal outcomes of extremely preterm infants from the NICHD Neonatal Research Network. Pediatrics 2010;126(3):443–456.

   OpenUrlAbstract/FREE Full Text
4. 4.↵
   1. Jobe AH,
   2. Bancalari E

   . Bronchopulmonary dysplasia. Am J Respir Crit Care Med 2001;163(7):1723–1729.

   OpenUrlCrossRefPubMed
5. 5.↵
   1. Ehrenkranz RA,
   2. Walsh MC,
   3. Vohr BR,
   4. Jobe AH,
   5. Wright LL,
   6. Fanaroff AA,
   7. et al

   . Validation of the National Institutes of Health consensus definition of bronchopulmonary dysplasia. Pediatrics 2005;116(6):1353–1360.

   OpenUrlAbstract/FREE Full Text
6. 6.↵
   1. Wang H,
   2. St Julien KR,
   3. Stevenson DK,
   4. Hoffmann TJ,
   5. Witte JS,
   6. Lazzeroni LC,
   7. et al

   . A genome-wide association study (GWAS) for bronchopulmonary dysplasia. Pediatrics 2013;132(2):290–297.

   OpenUrlAbstract/FREE Full Text
7. 7.↵
   1. Wilmott RW,
   2. Boat TF,
   3. Bush A,
   4. Chernick V,
   5. Deterdin RR,
   6. Ratjen F

   (editors). Kendig and Chernick's disorders of the respiratory tract in children, 8th edition. Philadelphia: Elsevier/Saunders; 2012.
8. 8.↵
   1. Laughon MM,
   2. Langer JC,
   3. Bose CL,
   4. Smith PB,
   5. Ambalavanan N,
   6. Kennedy KA,
   7. et al

   . Prediction of bronchopulmonary dysplasia by postnatal age in extremely premature infants. Am J Respir Crit Care Med 2011;183(12):1715–1722.

   OpenUrlCrossRefPubMedWeb of Science
9. 9.↵
   1. Clapham KR,
   2. Yu TW,
   3. Ganesh VS,
   4. Barry B,
   5. Chan Y,
   6. Mei D,
   7. et al

   . FLNA genomic rearrangements cause periventricular nodular heterotopia. Neurology 2012;78(4):269–278.

   OpenUrl
10. 10.↵
    1. Fox JW,
    2. Lamperti ED,
    3. Ekşioğlu YZ,
    4. Hong SE,
    5. Feng Y,
    6. Graham DA,
    7. et al

    . Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 1998;21(6):1315–1325.

    OpenUrlCrossRefPubMedWeb of Science
11. 11.↵
    1. Guerrini R,
    2. Carrozzo R

    . Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing. Seizure 2001;10(7):532–543.

    OpenUrlCrossRefPubMedWeb of Science
12. 12.↵
    1. de Wit MC,
    2. de Coo IF,
    3. Lequin MH,
    4. Halley DJ,
    5. Roos-Hesselink JW,
    6. Mancini GM

    . Combined cardiological and neurological abnormalities due to filamin A gene mutation. Clin Res Cardiol 2011;100(1):45–50.

    OpenUrlPubMed
13. 13.↵
    1. Pagon RA,
    2. Adam MP,
    3. Bird TD,
    4. Dolan CR,
    5. Fong CT,
    6. Stephens K

    1. Sheen VL,
    2. Bodell A,
    3. Walsh CA

    . X-linked periventricular heterotopia. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K , editors. GeneReviews [Internet]. Seattle, WA: University of Washington; 1993–2014. Updated 2009. http://www.ncbi.nlm.nih.gov/books/NBK1213. Accessed June 26, 2014.
14. 14.↵
    1. Masurel-Paulet A,
    2. Haan E,
    3. Thompson EM,
    4. Goizet C,
    5. Thauvin-Robinet C,
    6. Tai A,
    7. et al

    . Lung disease associated with periventricular nodular heterotopia and an FLNA mutation. Eur J Med Genet 2011;54(1):25–28.

    OpenUrlCrossRefPubMed
15. 15.↵
    1. de Wit MC,
    2. Tiddens HA,
    3. de Coo IF,
    4. Mancini GM

    . Lung disease in FLNA mutation: confirmatory report. Eur J Med Genet 2011;54(3):299–300.

    OpenUrlPubMed
16. 16.↵
    1. Gérard-Blanluet M,
    2. Sheen V,
    3. Machinis K,
    4. Neal J,
    5. Apse K,
    6. Danan C,
    7. et al

    . Bilateral periventricular heterotopias in an X-linked dominant transmission in a family with two affected males. Am J Med Genet 2006;140(10):1041–1046.

    OpenUrlPubMed
17. 17.↵
    1. Das S,
    2. Langston C,
    3. Fan LL

    . Interstitial lung disease in children. Curr Opin Pediatr 2011;23(3):325–331.

    OpenUrlCrossRefPubMed
18. 18.↵
    1. Coclite E,
    2. Di Natale C,
    3. Nigro G

    . Congenital and perinatal cytomegalovirus lung infection. J Matern Fetal Neonatal Med 2013;26(17):1671–1675.

    OpenUrlPubMed
19. 19.
    1. Sawyer MH,
    2. Edwards DK,
    3. Spector SA

    . Cytomegalovirus infection and bronchopulmonary dysplasia in premature infants. Am J Dis Child 1987;141(3):303–305.

    OpenUrlCrossRefPubMed
20. 20.↵
    1. Walter-Nicolet E,
    2. Leblanc M,
    3. Leruez-Ville M,
    4. Hubert P,
    5. Mitanchez D

    . Congenital cytomegalovirus infection manifesting as neonatal persistent pulmonary hypertension: report of two cases. Pulm Med 2011;2011:293285.

    OpenUrlPubMed