Browsing by Author "Anuk-İnce, Deniz"

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    A rare large mutation involving two exons of the SP-B gene in an infant with severe respiratory distress
    (2017) Anuk-İnce, Deniz; Takci, Sahin; Louha, Malek; Couderc, Remy; Cakar, Nursen; Koseoglu, Resit Dogan; Ates, Omer; 0000-0002-4369-2110; 29624232; I-6746-2016
    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.