ABCA3 p.Asp696Asn
| ClinVar: |
c.2086G>A
,
p.Asp696Asn
?
, Uncertain significance
|
| Predicted by SNAP2: | A: D (71%), C: D (71%), E: N (53%), F: D (80%), G: D (63%), H: D (71%), I: D (75%), K: D (66%), L: D (80%), M: D (80%), N: D (63%), P: D (71%), Q: D (66%), R: D (71%), S: D (59%), T: N (53%), V: D (95%), W: D (91%), Y: D (75%), |
| Predicted by PROVEAN: | A: D, C: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[hide] Different course of lung disease in two siblings w... Eur J Pediatr. 2014 Dec;173(12):1553-6. doi: 10.1007/s00431-013-2087-3. Epub 2013 Jul 12. Hallik M, Annilo T, Ilmoja ML
Different course of lung disease in two siblings with novel ABCA3 mutations.
Eur J Pediatr. 2014 Dec;173(12):1553-6. doi: 10.1007/s00431-013-2087-3. Epub 2013 Jul 12., [PMID:23846195]
Abstract [show]
Mutations in the gene for adenosine triphosphate-binding cassette transporter subfamily A member 3 (ABCA3) have been reported in infants and children with surfactant deficiency and interstitial lung disease. We report a case of siblings found to be compound heterozygotes for two novel ABCA3 gene mutations but developing very different course of lung disease. The index case is a baby girl with severe interstitial lung disease that manifested on the first days of life. Her 4-year-old brother carrying the same mutations has no signs of lung disease so far. Our findings suggest the contribution of other genetic, epigenetic and environmental factors to discordant phenotype observed in patients carrying the same mutations in the ABCA3 gene. The clinical course of the index case suggests benefit of combined medical therapy in treating infants with ABCA3 deficiency.
Comments [show]
None has been submitted yet.
No. Sentence Comment
34 Two novel compound heterozygous mutations in the ABCA3 gene were found: Asp507 del CA Ter 508 mutation in exon 13 and Asp696 Asn (D696 N) in exon 17.
X
ABCA3 p.Asp696Asn 23846195:34:118
status: NEW37 Parental studies identified the father as a carrier of the deletion mutation Asp507 del CA Ter 508 in exon 13, which was coupled to the exon 13+66 G/A polymorphism, and the mother as a carrier of the Asp696 Asn (D696 N) missense mutation in exon 17.
X
ABCA3 p.Asp696Asn 23846195:37:200
status: NEW