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A rare large mutation involving two exons of the SP-B gene in an infant with severe respiratory distress

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Date
2017
Author
Anuk-İnce, Deniz
Takci, Sahin
Louha, Malek
Couderc, Remy
Cakar, Nursen
Koseoglu, Resit Dogan
Ates, Omer
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Abstract
Hereditary surfactant protein-B (SP-B) deficiency is a rare autosomal recessive disease of newborn infants causing severe respiratory failure and death within the first year of life. The most common cause of SP-B deficiency is a frameshift mutation in exon 4 (121ins2) in the gene encoding SP-B. We report a term infant with unremitting respiratory distress who was unresponsive to all treatment modalities. The parents were consanguineous and a term sibling of the infant had died due to respiratory failure without a certain diagnosis. In the first step of the diagnostic work-up, common genetic mutations for SP-B, surfactant protein C and ATP-binding cassette s3 were absent, however sequencing of SP-B gene revealed a large homozygous genomic deletion covering exon 8 and 9. In this case report, we aimed to emphasize further genetic evaluation in all cases suggestive of surfactant dysfunction, even if common mutations are absent.
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http://www.turkishjournalpediatrics.org/uploads/pdf_TJP_1753.pdf
http://hdl.handle.net/11727/3487
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  • Tıp Fakültesi / Faculty of Medicine [1997]

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