The Journal of Pediatrics
Volume 155, Issue 6 , Pages 854-859.e1 , December 2009

Inherited Surfactant Deficiency Caused by Uniparental Disomy of Rare Mutations in the Surfactant Protein-B and ATP Binding Cassette, Subfamily A, Member 3 Genes

  • Aaron Hamvas, MD

      Affiliations

    • Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO
    • Corresponding Author InformationReprint requests: Aaron Hamvas, MD, Division of Newborn Medicine, St. Louis Children's Hospital, One Children's Place, St. Louis, MO 63110.
    • ,
  • Lawrence M. Nogee, MD

      Affiliations

    • Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD
    • ,
  • Daniel J. Wegner, MS

      Affiliations

    • Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO
    • ,
  • Kelcey DePass, BA

      Affiliations

    • Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO
    • ,
  • John Christodoulou, MBBS, PhD

      Affiliations

    • Western Sydney Genetics Program, Children's Hospital at Westmead, New South Wales, Australia
    • Disciplines of Paediatrics and Child Health & Genetic Medicine, University of Sydney, Sydney, New South Wales, Australia
    • ,
  • Bruce Bennetts, PhD

      Affiliations

    • Western Sydney Genetics Program, Children's Hospital at Westmead, New South Wales, Australia
    • Disciplines of Paediatrics and Child Health & Genetic Medicine, University of Sydney, Sydney, New South Wales, Australia
    • ,
  • Leon R. McQuade, PhD

      Affiliations

    • Western Sydney Genetics Program, Children's Hospital at Westmead, New South Wales, Australia
    • ,
  • Peter H. Gray, MD

      Affiliations

    • Department of Neonatology, University of Queensland Mater Mothers' Hospital, Brisbane, Queensland, Australia
    • ,
  • Robin R. Deterding, MD

      Affiliations

    • Department of Pediatrics, University of Colorado Health Sciences Center, Denver, CO
    • ,
  • Travis R. Carroll, MD

      Affiliations

    • Division of Neonatology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT
    • ,
  • Anja Kammesheidt, PhD

      Affiliations

    • Ambry Genetics, Aliso Viejo, CA
    • ,
  • Laura M. Kasch, BA

      Affiliations

    • Fragment Analysis Facility, Johns Hopkins University School of Medicine, Baltimore, MD
    • ,
  • Shashikant Kulkarni, PhD

      Affiliations

    • Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO
    • Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO
    • ,
  • F. Sessions Cole, MD

      Affiliations

    • Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St. Louis Children's Hospital, St. Louis, MO

Received 30 December 2008 ,Revised 1 May 2009 ,Accepted 3 June 2009.

References 

  1. Hamvas A. Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: Clinical features and evaluation. Semin Perinatol. 2006;30:316–326
  2. Bullard J, Wert SE, Nogee LM. ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease. Semin Perinatol. 2006;30:327–334
  3. Nogee L, Wert SE, Proffit SA, Hull WM, Whitsett JA. Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency. Am J Respir Crit Care Med. 2000;161:973–981
  4. Shulenin S NL , Annilo T, Wert SE, Whitsett JA, Dean M. ABCA3 gene mutations in newborns with fatal surfactant deficiency. N Engl J Med. 2004;350:1296–1303
  5. Garmany T, Moxley MA, White FV, Dean M, Nogee LM, Hamvas A. Surfactant composition and function in patients with ABCA3 mutations. Pediatr Res. 2006;59:801–805
  6. Brasch F, Schimanski S, Muhlfeld C, Barlage S, Langmann T, Aslanidis C, et al. Alteration of the pulmonary surfactant system in full-term infants with hereditary ABCA3 deficiency. Am J Resp Crit Care Med. 2006;174:571–580
  7. Engel E. Uniparental disomies in unselected populations. Am J Hum Genet. 1998;63:962–966
  8. Kotzot D. Abnormal phenotypes in uniparental disomy (UPD): fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet. 1999;82:265–274
  9. Chavez B, Valdez E, Vilchis F. Uniparental disomy in steroid 5-alpha-reductase2 deficiency. J Clin Endocrinol Metab. 2000;85:3147–3150
  10. Bakker B, Bikker H, Hennekam RC, Lommen EJ, Schipper MG, Vulsma T, et al. Maternal isodisomy for chromosome 2p causing severe congenital hypothyroidism. J Clin Endocrinol Metab. 2001;86:1164–1168
  11. Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, et al. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. Am J Hum Genet. 2002;70:224–229
  12. Spiekerkoetter U, Eeds A, Yue Z, Haines J, Strauss AW, Summar M. Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations. Hum Mutation. 2002;20:447–451
  13. Chevalier-Porst F, Rolland MO, Cochat P, Bozon D. Maternal isodisomy of the telomeric end of chromosome 2 is responsible for a case of primary hyperoxaluria type 1. Am J Med Genet. 2005;132A:80–83
  14. Petit FM, Gajdos V, Parisot F, Capel L, Aboura A, Lachaux A, et al. Paternal isodisomy for chromosome 2 as the cause of Crigler-Najjar type I syndrome. Eur J Hum Genet. 2005;13:278–282
  15. Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, et al. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. Am J Med Genet. 2008;146A:1842–1847
  16. Malvagia S, Papi L, Morrone A, Donati MA, Ciani F, Pasquini E, et al. Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16. Ann Hum Genet. 2007;71:705–712
  17. Tredano M, Cooper DN, Stuhrmann M, Christodoulou J, Chuzhanova NA, Roudot-Thoraval F, et al. Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency. Am J Med Genet A. 2006;140:62–69
  18. Garmany TH, Wambach JA, Heins HB, Watkins-Torry J, Wegner DJ, Bennet K, et al. Population and disease-based prevalence of the common mutations associated with surfactant deficiency. Pediatr Res. 2008;63:645–649
  19. Wegner D, Hertzberg T, Heins HB, Elmberger G, MacCoss MJ, Carlson CS, et al. A major deletion in the surfactant protein-B gene causing lethal respiratory distress. Acta Paediatr. 2007;96:516–520
  20. McQuade L, Christodoulou J, Budarf M, Sachdev R, Wilson M, Emanuel B, et al. A further case of a 22q11.2 deletion with no overlap to the minimal DiGeorge syndrome critical region (MDGCR): the involvement of the TBX1 and COMT genes in the deletion and the clinical phenotype. Am J Med Genet. 1999;86:27–33
  21. Tryka A, Wert SE, Mazursky JE, Arrington RW, Nogee LM. Absence of lamellar bodies with accumulation of dense bodies characterizes a novel form of congenital surfactant defect. Pediatr Dev Pathol. 2000;3:335–345
  22. Somaschini M, Nogee LM, Sassi I, Danhaive O, Presi S, Boldrini R, et al. Unexplained neonatal respiratory distress due to congenital surfactant deficiency. J Pediatr. 2007;150:649–653
  23. Kotzot D, Utermann G. Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated. Am J Med Genet. 2005;136A:287–305
  24. Robinson WP, Barrett IJ, Bernard L, Telenius A, Bernasconi F, Wilson RD, et al. Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet. 1997;60:917–927
  25. Engel E. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet. 2006;14:1158–1169
  26. Yong PJ, Barrett IJ, Kalousek DK, Robinson WP. Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism. J Med Genet. 2003;40:175–182
  27. Hassold TJ, Jacobs PA. Trisomy in man. Ann Rev Genet. 1984;18:581–587
  28. Wolstenholme J. An audit of trisomy 16 in man. Prenat Diagn. 1995;15:109–121
  29. Kohlhase J, Janssen B, Weidenauer K, Harms K, Bartels I. First confirmed case with paternal uniparental disomy of chromosome 16. Am J Med Genet. 2000;91:190–191
  30. Wolstenholme J, White I, Sturgiss S, Carter J, Plant N, Goodship JA. Maternal uniparental heterodisomy for chromosome 2: detection through ‘atypical’ maternal AFP/hCG levels, with an update on a previous case. Prenat Diagn. 2001;21:813–817
  31. Webb AL, Sturgiss S, Warwicker P, Robson SC, Goodship JA, Wolstenholme J. Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation. Prenat Diagn. 1996;16:958–962
  32. Johnston KM, Baker JC, Egli CA, McCaskill C, Shaffer LG. Maternal uniparental isodisomy of chromosome 2 in a child with growth retardation, hypospadias and a cytogenetic abnormality. Am J Hum Genet Suppl. 1996;59:A95
  33. Shaffer LG, McCaskill C, Egli CA, Baker JC, Johnston KM. Is there phenotype associated with maternal isodisomy for chromosome 2 in the presence of two isochromosomes?. Am J Hum Genet. 1997;61:461–462
  34. Harrison K, Eisenger K, Anyane-Yeboa K, Brown S. Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture. Am J Med Genet. 1995;58:147–151
  35. Kalousek DK, Langlois S, Barrett I, Yam I, Wilson DR, Howard-Peebles , et al. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet. 1993;52:8–16
  36. Vaughan J, Ali Z, Bower S, Bennett P, Chard T, Moore G. Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat Diagn. 1994;14:751–756
  37. O'Riordan S, Greenough A, Moore GE, Bennett P, Nicolaides KH. Case report: uniparental disomy 16 in association with congenital heart disease. Prenat Diagn. 1996;16:963–965
  38. Abu-Amero S, Ali Z, Abu-Amero KK, Stanier P, Moore GE. An analysis of common isodisomic regions in five mUPD 16 probands. J Med Genet. 1999;36:204–207
  39. Chan Y, Silverman N, Jackson L, Wapner R, Wallerstein R. Maternal uniparental disomy of chromosome 16 and body stalk anomaly. Am J Med Genet. 2000;94:284–286
  40. Wattanasirichaigoon D, Promsonthi P, Chuansumrit A, Leopairut J, Yanatatsaneejit P, Rattanatanyong P, et al. Maternal uniparental disomy of chromosome 16 resulting in hemoglobin Bart's hydrops fetalis. Clin Genet. 2008;74:284–287

 Supported by the National Heart, Lung, and Blood Institute (HL 65174 and HL 82747-FSC/AH, HL 54703) (L.M.N.), the Eudowood Foundation (L.M.N.), and the Children's Discovery Institute and the Saigh Foundation (F.S.C., A.H.).

 The authors declare no conflicts of interest.

PII: S0022-3476(09)00551-4

doi: 10.1016/j.jpeds.2009.06.006

The Journal of Pediatrics
Volume 155, Issue 6 , Pages 854-859.e1 , December 2009

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