ABCC7 p.Cys524Tyr
| ClinVar: |
c.1572C>A
,
p.Cys524*
D
, Pathogenic
|
| CF databases: |
c.1572C>A
,
p.Cys524*
D
, CF-causing
|
| Predicted by SNAP2: | A: D (63%), D: D (91%), E: D (91%), F: D (91%), G: D (85%), H: D (91%), I: D (85%), K: D (91%), L: D (91%), M: D (85%), N: D (85%), P: D (91%), Q: D (91%), R: D (91%), S: D (80%), T: D (80%), V: N (53%), W: D (91%), Y: D (91%), |
| Predicted by PROVEAN: | A: D, D: 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, |
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[hide] Lethal course of meconium ileus in preterm twins r... BMC Pediatr. 2014 Jan 17;14:13. doi: 10.1186/1471-2431-14-13. Puzik A, Morris-Rosendahl DJ, Ruckauer KD, Otto C, Gessler P, Saueressig U, Hentschel R
Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr).
BMC Pediatr. 2014 Jan 17;14:13. doi: 10.1186/1471-2431-14-13., [PMID:24433235]
Abstract [show]
BACKGROUND: In term newborns meconium ileus is frequently associated with cystic fibrosis. Reports on meconium ileus in preterm infants being diagnosed with cystic fibrosis early after birth are very scarce. Associations between genotype and phenotype in cystic fibrosis and its particular comorbidities have been reported. CASE PRESENTATION: Two extremely preterm twin infants (26 weeks of gestation) born from a Malaysian mother and a Caucasian father were presented with typical signs of meconium ileus. Despite immediate surgery both displayed a unique and finally lethal course. Mutation analysis revealed a novel, probably pathogenic cystic fibrosis mutation, p.Cys524Tyr. The novel mutation might explain the severity of disease next to typical sequelae of prematurity. CONCLUSION: Preterm neonates with meconium ileus have to be evaluated for cystic fibrosis beyond ethnical boundaries, but may take devastating clinical courses despite early treatment. The novel, potentially pathogenic CF mutation p.Cys524Tyr might be associated with severe meconium ileus in neonates. Disease-modifying loci are important targets for intestinal comorbidity of cystic fibrosis.
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No. Sentence Comment
58 Mutation analysis showed compound heterozygosity for the common CFTR mutation p.Phe508del (F508del or ƊF508, c.1521_1523 delCTT at the DNA level) and another, as yet unknown mutation, p.Cys524Tyr (C524Y, c.1571G > A at the DNA level), both in exon 11.
X
ABCC7 p.Cys524Tyr 24433235:58:191
status: NEWX
ABCC7 p.Cys524Tyr 24433235:58:202
status: NEW124 Hum Mol Genet 1992, 1(1):11-17. doi:10.1186/1471-2431-14-13 Cite this article as: Puzik et al.: Lethal course of meconium ileus in preterm twins revealing a novel cystic fibrosis mutation (p.Cys524Tyr).
X
ABCC7 p.Cys524Tyr 24433235:124:191
status: NEW