ABCMdb

PMID: 25367056

Giovannoni I, Callea F, Travaglini L, Amodeo A, Cogo P, Secinaro A, Bizzarri C, Cutrera R, El Hachem M, Francalanci P
Heart transplant and 2-year follow up in a child with generalized arterial calcification of infancy.
Eur J Pediatr. 2014 Dec;173(12):1735-40. doi: 10.1007/s00431-014-2447-7. Epub 2014 Nov 1., [PubMed]

Sentences

No. Mutations Sentence Comment

56 ABCC6 p.Arg1141* ABCC6 p.Gln378* A compound heterozygosity was identified in ABCC6: the mutations were located at nucleotide position c.1132C>T (p.Q378X) and c.3421C>T (p.R1141X). Login to comment 58 ABCC6 p.Arg1141* ABCC6 p.Gln378* ABCC6 p.Gln378* Segregation analysis showed a compound heterozygous mutations with c.1132C>T (p.Q378X) and del_24-27 in the mother and a double heterozygous mutations c.1132C>T (p.Q378X) and c.3421C>T (p.R1141X) in the father. Login to comment 85 ABCC6 p.Arg1141* ABCC6 p.Arg1141* ABCC6 p.Gln378* ABCC6 p.Gln378* ABCC6 p.Gln378* Fig. 2 Pedigree and haplotype analysis with markers from the ABCC6 regions: a double mutation on the same allele in cis (p.Q378X, p.R1141X) was found in the father and a mutation on the other allele in trans (p.Q378X, del_24-27) was found in the mother, affected by PXE (asterisk); the patient showed a compound heterozygous mutations of p.Q378X, p.R1141X, and del_24-27 Conclusions In this child with GACI and end-stage myocardial ischemia, the transplant solved the heart failure as observed throughout the 2-year follow-up and no new calcifications have been observed at the cardiac level (no coronary deposits). Login to comment