This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Cole, F. S.
Right arrow Articles by Colten, H. R.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Cole, F. S.
Right arrow Articles by Colten, H. R.
Related Collections
Right arrow Premature & Newborn

PEDIATRICS Vol. 105 No. 3 March 2000, pp. 538-541

Population-Based Estimates of Surfactant Protein B Deficiency

Received Apr 13, 1999; accepted Jun 11, 1999.

F. Sessions Cole*, Aaron Hamvas*, Pablo RubinsteinDagger , Erin King*, Michelle Trusgnich*, Lawrence M. Nogeeparallel , Daphne E. deMello§, and Harvey R. Colten

From the * Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine and St Louis Children's Hospital, St Louis, Missouri; Dagger  New York Blood Center, New York, New York; § Department of Pathology, St Louis University School of Medicine, St Louis, Missouri; parallel  Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland; and  Northwestern University School of Medicine, Chicago, Illinois.

Objective.  Surfactant protein B deficiency is a lethal cause of respiratory distress in infancy that results most commonly from a homozygous frameshift mutation (121ins2). Using independent clinical ascertainment and molecular methods in different populations, we sought to determine allele frequency.

Study Design.  Using clinical characteristics of the phenotype of affected infants, we screened the Missouri linked birth-death database (n = 1 052 544) to ascertain potentially affected infants. We used molecular amplification and restriction enzyme digestion of DNA samples from a metropolitan New York birth cohort (n = 6599) to estimate allele frequency.

Results.  The point estimate and 95% confidence interval of the 121ins2 allele frequency in the Missouri cohort are 1/1000 individuals (.03-5.6/1000) and in the New York cohort are .15/1000 (.08-.25/1000). These estimates are not statistically different.

Conclusions.  The close approximation of these independent estimates suggests accurate gene frequency (approximately one 121ins2 mutation per 1000-3000 individuals) despite its rare occurrence and that this mutation does not account for the majority of full-term infants with lethal respiratory distress.  Key words:  genetic, respiratory distress, surfactant protein B.




This article has been cited by other articles:


Home page
 NeoReviewsHome page
A. Faro and A. Hamvas
Lung Transplantation for Inherited Disorders of Surfactant Metabolism
NeoReviews, October 1, 2008; 9(10): e468 - e476.
[Abstract] [Full Text] [PDF]

Home page
 EDUCATION AND PRACTICEHome page
M E Abdel-Latif, J Oei, M Ward, E J Wills, V Tobias, and K Lui
Galvanised by a respiratory distress diagnosis
Arch. Dis. Child. Ed. Pract., August 1, 2008; 93(4): 112 - 119.
[Full Text] [PDF]

Home page
 Eur Respir JHome page
A. Bush
Paediatric interstitial lung disease: not just kid's stuff
Eur. Respir. J., October 1, 2004; 24(4): 521 - 523.
[Full Text] [PDF]

Home page
 Hum Mol GenetHome page
J. A. Whitsett, S. E. Wert, and B. C. Trapnell
Genetic disorders influencing lung formation and function at birth
Hum. Mol. Genet., October 1, 2004; 13(suppl_2): R207 - R215.
[Abstract] [Full Text] [PDF]

Home page
 Am. J. Physiol. Lung Cell. Mol. Physiol.Home page
F. S. Cole
Surfactant protein B: unambiguously necessary for adult pulmonary function
Am J Physiol Lung Cell Mol Physiol, September 1, 2003; 285(3): L540 - L542.
[Full Text] [PDF]

Home page
 Am. J. Respir. Crit. Care Med.Home page
J. F. Seymour and J. J. Presneill
Pulmonary Alveolar Proteinosis: Progress in the First 44 Years
Am. J. Respir. Crit. Care Med., July 15, 2002; 166(2): 215 - 235.
[Abstract] [Full Text] [PDF]