Surfactant protein B deficiency caused by a novel mutation involving multiple exons of the SP-B gene.
Eur J Med Res
; 13(6): 281-6, 2008 Jun 24.
Article
en En
| MEDLINE
| ID: mdl-18558554
ABSTRACT
BACKGROUND:
Inability to produce surfactant protein (SP)-B causes fatal neonatal respiratory disease. Homozygosity for a frameshift mutation (121ins2) in the gene encoding SP-B (SFTPB) is the predominant but not the exclusive cause of disease.OBJECTIVES:
To report a novel mutation in the SFTB gene.METHODS:
We analyzed tracheal aspirates, lung tissue obtained by in vivo lung biopsy and DNA from a newborn infant with lethal respiratory failure.RESULTS:
DNA analysis revealed a large homozygous genomic deletion encompassing exon 7 and 8 of SFTPB gene, a mutation we described as c.673-1248del2959. The parents were both heterozygous carriers. Analysis of the SP profile in tracheal aspirates and lung tissue by immunohistochemistry, routine and electron microscopy supported the diagnosis of SP-B deficiency and suggested that this large mutation might lead to abnormal routing and processing of proSP-B and proSP-C.CONCLUSIONS:
This report shows that SP-B deficiency can also be caused by a multi exon deletion in the SFTPB gene and this finding emphasizes the importance of using modern DNA analysis techniques capable of detecting multi exon deletions.
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Banco de datos:
MEDLINE
Asunto principal:
Precursores de Proteínas
/
Proteolípidos
/
Exones
/
Mutación
Tipo de estudio:
Prognostic_studies
Límite:
Female
/
Humans
/
Newborn
Idioma:
En
Año:
2008
Tipo del documento:
Article