Article Text

CONGENITAL SURFACTANT PROTEIN B (SP-B) A RECESSIVE AUTOSOMAL DISEASE OF THE TERM NEWBORN: MOLECULAR DIAGNOSIS
  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

Abstract

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.

Statistics from Altmetric.com

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.