Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily A, member 3 genes

Journal of Pediatrics

Volumn 155, Issue 6, 2009, Pages

  Hamvas, Aaron ^a   Nogee, Lawrence M ^c   Wegner, Daniel J ^a   DePass, Kelcey ^a   Christodoulou, John ^d,e   Bennetts, Bruce ^d,e   McQuade, Leon R ^d   Gray, Peter H ^f   Deterding, Robin R ^g   Carroll, Travis R ^h   Kammesheidt, Anja ⁱ   Kasch, Laura M ^c   Kulkarni, Shashikant ^a,b   Cole, F Sessions ^a  

^a ST LOUIS CHILDREN S HOSPITAL   (United States)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^e UNIVERSITY OF SYDNEY   (Australia)

^f UNIVERSITY OF QUEENSLAND   (Australia)

^g UNIVERSITY OF COLORADO   (United States)

^h UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

ⁱ AMBRY GENETICS   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER; ABCA3 PROTEIN, HUMAN; SURFACTANT PROTEIN B;

ARTICLE; CASE REPORT; CHROMOSOME 16; CHROMOSOME 2; FATALITY; FEMALE; GENETICS; HUMAN; INFANT; MALE; MUTATION; NEWBORN; UNIPARENTAL DISOMY;

ATP-BINDING CASSETTE TRANSPORTERS; CHROMOSOMES, HUMAN, PAIR 16; CHROMOSOMES, HUMAN, PAIR 2; FATAL OUTCOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PULMONARY SURFACTANT-ASSOCIATED PROTEIN B; UNIPARENTAL DISOMY;

EID: 73949137628     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2009.06.006     Document Type: Article

References (40)

1. Hamvas A. Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: Clinical features and evaluation. Semin Perinatol 2006;30:316-26. (Pubitemid 44827225)
2. Bullard J, Wert SE, Nogee LM. ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease. Semin Perinatol 2006;30:327-34. (Pubitemid 44827226)
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;161:973-81. (Pubitemid 30171760)
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;350:1296-303. (Pubitemid 38375364)
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;59:801-5. (Pubitemid 44297632)
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: 571-80. (Pubitemid 44330551)
7. Engel E. Uniparental disomies in unselected populations. Am J Hum Genet 1998;63:962-6. (Pubitemid 30418564)
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;82:265-74. (Pubitemid 29078817)
9. Chavez B, Valdez E, Vilchis F. Uniparental disomy in steroid 5-alpha-reductase2 deficiency. J Clin Endocrinol Metab 2000;85:3147-50.
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;86:1164-8. (Pubitemid 32322999)
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;70:224-9. (Pubitemid 34031710)
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;20:447-51. (Pubitemid 35453561)
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:80-3. (Pubitemid 40070567)
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;13:278-82. (Pubitemid 40360781)
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:1842-7. (Pubitemid 352000724)
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;71:705-12. (Pubitemid 47517253)
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;140:62-9. (Pubitemid 43054036)
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: 645-9.
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;96:516-20. (Pubitemid 46466116)
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. (Pubitemid 29387712)
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;3:335-45. (Pubitemid 30421948)
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;150:649-53.
23. Kotzot D, Utermann G. Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.AmJ Med Genet 2005;136A:287-305. (Pubitemid 40973797)
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;60:917-27. (Pubitemid 27146501)
25. Engel E. A fascination with chromosome rescue in uniparental disomy: Mendelian recessive outlaws and imprinting copyrights infringements. Eur J Hum Genet 2006;14:1158-69. (Pubitemid 44642581)
26. Yong PJ, Barrett IJ, Kalousek DK, Robinson WP. Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism. J Med Genet 2003;40:175-82. (Pubitemid 36315388)
27. Hassold TJ, Jacobs PA. Trisomy in man. Ann Rev Genet 1984;18:581-7.
28. Wolstenholme J. An audit of trisomy 16 in man. Prenat Diagn 1995;15: 109-21.
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;91:190-1. (Pubitemid 30165421)
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;21:813-7. (Pubitemid 33064073)
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;16:958-62. (Pubitemid 26379905)
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;61:461-2. (Pubitemid 27382326)
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;58:147-51.
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. (Pubitemid 23059043)
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;14:751-6. (Pubitemid 24270724)
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;16:963-5. (Pubitemid 26379906)
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;36:204-7. (Pubitemid 29110449)
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;94:284-6.
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;74:284-7.