PMID- 10571948
OWN - NLM
STAT- MEDLINE
DCOM- 20000124
LR  - 20061115
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 14
IP  - 6
DP  - 1999
TI  - Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe
      congenital lung disease and surfactant protein B (SP-B) deficiency.
PG  - 502-9
AB  - Several human respiratory disorders have been linked to an abnormality of
      pulmonary surfactant synthesis or turnover. Among those conditions, hereditary
      deficiency in the hydrophobic surfactant protein B (SP-B) has been recognized as 
      a rare cause of respiratory failure in term newborn infants. Homozygosity for a
      common mutation (1549C-->GAA, or 121ins2) of the SP-B-encoding gene (SFTPB)
      results in rapidly fatal respiratory failure, with complete absence of the mRNA
      and protein observed in lung fluid or biopsy specimens. Hereditary SP-B
      deficiency is also associated with aberrant processing of proSP-C and deficiency 
      of the active SP-C peptide. In the present study, we characterized the SFTPB gene
      in an infant with severe unexplained respiratory distress and identified a
      paternally derived 1549C-->GAA lesion, as well as a hitherto unreported mutation 
      (457delC) inherited from the mother. Analysis of bronchoalveolar lavage fluid
      demonstrated the complete absence of SP-B. However, unlike previous infants with 
      hereditary SP-B deficiency, proSP-C was processed to the active SP-C peptide,
      suggesting that the defect in SP-B, rather than SP-C, caused the respiratory
      distress in this infant. The present findings demonstrate the importance of SFTPB
      in pulmonary function and support the need for further genotype-phenotype
      correlations in patients with SP-B deficiency.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Tredano, M
AU  - Tredano M
AD  - Service de Biochimie et Biologie Moleculaire, Hopital d'Enfants Armand-Trousseau,
      Paris, France. biochimie.trousseau@trs.ap-hop-paris.fr
FAU - van Elburg, R M
AU  - van Elburg RM
FAU - Kaspers, A G
AU  - Kaspers AG
FAU - Zimmermann, L J
AU  - Zimmermann LJ
FAU - Houdayer, C
AU  - Houdayer C
FAU - Aymard, P
AU  - Aymard P
FAU - Hull, W M
AU  - Hull WM
FAU - Whitsett, J A
AU  - Whitsett JA
FAU - Elion, J
AU  - Elion J
FAU - Griese, M
AU  - Griese M
FAU - Bahuau, M
AU  - Bahuau M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 0 (DNA Primers)
RN  - 0 (Proteolipids)
RN  - 0 (Pulmonary Surfactants)
SB  - IM
MH  - Base Sequence
MH  - Bronchoalveolar Lavage Fluid/chemistry
MH  - DNA Primers/genetics
MH  - Exons
MH  - Female
MH  - Frameshift Mutation
MH  - Genotype
MH  - Heterozygote
MH  - Humans
MH  - Infant, Newborn
MH  - Male
MH  - *Mutation
MH  - Pedigree
MH  - Phenotype
MH  - Proteolipids/*genetics/metabolism
MH  - Pulmonary Surfactants/*genetics/metabolism
MH  - Respiratory Distress Syndrome, Newborn/*genetics/metabolism
MH  - Sequence Deletion
EDAT- 1999/11/26 00:00
MHDA- 1999/11/26 00:01
CRDT- 1999/11/26 00:00
PHST- 1999/11/26 00:00 [pubmed]
PHST- 1999/11/26 00:01 [medline]
PHST- 1999/11/26 00:00 [entrez]
AID - 10.1002/(SICI)1098-1004(199912)14:6<502::AID-HUMU9>3.0.CO;2-C [pii]
AID - 10.1002/(SICI)1098-1004(199912)14:6<502::AID-HUMU9>3.0.CO;2-C [doi]
PST - ppublish
SO  - Hum Mutat. 1999;14(6):502-9. doi:
      10.1002/(SICI)1098-1004(199912)14:6<502::AID-HUMU9>3.0.CO;2-C.