ABCMdb

PMID: 25062999

Marcorelles P, Friocourt G, Uguen A, Lede F, Ferec C, Laquerriere A
Cystic fibrosis transmembrane conductance regulator protein (CFTR) expression in the developing human brain: comparative immunohistochemical study between patients with normal and mutated CFTR.
J Histochem Cytochem. 2014 Nov;62(11):791-801. doi: 10.1369/0022155414546190. Epub 2014 Jul 25., [PubMed]

Sentences

No. Mutations Sentence Comment

55 ABCC7 p.Glu60* ABCC7 p.Arg553Gly Case number Gestational Age CFTR mutation Cause of Death Control cases 1 13 WG Spontaneous abortion 2 16 WG Acute chorioamnionitis 3 18 WG Acute chorioamnionitis 4 22 WG Acute chorioamnionitis 5 23 +4 WG In utero death 6 24 WG Premature rupture of the membranes 7 30 WG Prematurity ߒ Bilateral hemorrhage of adrenal glands 8 34 WG Meconium ileus ߒ Termination of pregnancy 9 38 WG Neonatal death ߒ Aspiration pneumonia 10 40 WG Per partum death ߒ Aspiration pneumonia (Streptococcus B) CF cases 11 13 WG p.F508del homozygous CF in sibling ߒ Termination of pregnancy 12 15 WG p.F508del/p.R553G CF in sibling ߒ Termination of pregnancy 13 19 WG p.F508del/p.E60X Neural tube defect ߒ Termination of pregnancy 14 26 WG p.F508del homozygous Meconium ileus ߒ Termination of pregnancy 15 26 WG p.F508del homozygous Meconium ileus ߒ Termination of pregnancy 16 34 WG p.F508del homozygous Prematurity ߒ Meconium ileus Abbreviation: WG, weeks of gestation. Login to comment 81 ABCC7 p.Arg553Gly In the corresponding 15 WG CF case (compound heterozygous p.F508del/p.R553G), a diffuse cytoplasmic neuronal expression was observed in the same brain structures as the control but with a much weaker and more diffuse expression (Table 2). Login to comment 83 ABCC7 p.Glu60* In the 19 WG CF case (compound heterozygous p.F508del/p.E60X), CFTR expression was very weak, more so than in the other CF cases (Table 2), probably due to the severity of the mutations. Login to comment 154 ABCC7 p.Glu60* This is in agreement with the genotype of this patient who has, in addition to the p.F508del mutation, a class I mutation (p.E60X) leading to the absence of the protein. Login to comment