Article Text

  1. J L Jimenez1,4,
  2. Y Lopez2,4,
  3. M Gonzalez-Rivera1,4,
  4. A Martinez1,4,
  5. J Cobas2,4,
  6. A Arroyos-Plana2,4,
  7. M Sanchez-Luna1,4,
  8. M J Mellado3,4,
  9. R Pineiro3,4,
  10. M A Munoz-Fernandez1,4
  1. 1Gregorio Maranon University Hospital, Madrid, Spain
  2. 2Virgen de la Salud Hospital, Toledo, Spain
  3. 3Carlos III Hospital, Madrid, Spain
  4. 4TEDDY Spanish Network: Task-Force in Europe for Drug Development for The Young EU. FP06. Project Number: LSHB-CT-2005-005216


Aim To identify mutations in the SP-B gene of term newborns with RDS.

Patient We studied 6 newborns. RDS developed in a female infant at the first four hours after delivery, who required mechanical ventilation. She was the first child of a non-consanguineous marriage. The family history had no particular remarks. Chest radiography showed a diffuse granular patterm with air bronchograms. Porcine surfactant administration resulted in an evident transient improvement of oxygenation and of the chest radiograph findings. Diagnosis of SP-B deficiency was then considered and genetic analysis was requested. An open lung biopsy was performed after 25 days. The infant died 2 days later.

Methodology Genomic DNA was isolated from parents and patients blood. Synthetic oligonucleotides (18–20 bases), corresponding to intronic sequences for the first 10 exons of the SP-B gene, were used in a PCR amplification. Direct PCR products sequencing was realized in an automated sequencer.

Results No mutations/SNP in the exons from SP-B gene from the 5 out of 6 cases suspected have been found. However, SP-B deficiency was confirmed at 25 days of life in a girl. DNA sequence analysis demonstrated the presence of the 121ins2 mutation in both alleles (homozygous), and in one of them in her parents, accounting for the SP-B deficiency.

Conclusion The molecular genetic study confirmed the diagnosis promptly to evaluate lung transplantation as unique survival treatment option. This is the first report of an SP-B deficient infant from Spain.

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