2 Department of Pediatrics, Baskent University Faculty of Medicine, Ankara
3 Department of Biochemistry, Armand Trousseau Hospital, Paris, France
4 Department of Pathology, Gaziosmanpasa University Faculty of Medicine, Tokat, Turkey
5 Deparment of Molecular Biology and Genetics, Gaziosmanpasa University Faculty of Medicine, Tokat, Turkey DOI : 10.24953/turkjped.2017.04.018 Takcı Ş, Anuk-İnce D, Louha M, Couderc R, Çakar N, Köseoğlu RD, Ateş Ö. A rare large mutation involving two exons of the SP-B gene in an infant with severe respiratory distress. Turk J Pediatr 2017; 59: 483-486.
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.
Keywords : surfactant protein B, severe, respiratory distress syndrome, term