A rare large mutation involving two exons of the sp-b gene in an infant with severe respiratory distress
Yazarlar (3)
Prof. Dr. Şahin Takcı Türkiye
Prof. Dr. Reşit Doğan KÖSEOĞLU Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Prof. Dr. Hacı Ömer ATEŞ Tokat Gaziosmanpaşa Üniversitesi, Türkiye
| Makale Türü |
Özgün Makale
(SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale)
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| Dergi Adı | The Turkish Journal of Pediatrics (Q4) | ||
| Dergi ISSN | 0041-4301 Dergi Bilgileri (2017) | ||
| Dergi Tarandığı Indeksler | SCI-Expanded | ||
| Makale Dili | Türkçe | Basım Tarihi | 01-2017 |
| Kabul Tarihi | – | Yayınlanma Tarihi | 28-08-2017 |
| Cilt / Sayı / Sayfa | 59 / 0 / – | DOI | 10.24953/turkjped.2017.04.018 |
| Makale Linki | http://dx.doi.org/10.24953/turkjped.2017.04.018 | ||
| UAK Araştırma Alanları |
Tıbbi Patoloji
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| Özet |
| 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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