ABCMdb

PMID: 22796691

Jain V, Flanagan SE, Ellard S
Permanent neonatal diabetes caused by a novel mutation.
Indian Pediatr. 2012 Jun;49(6):486-8., [PubMed]

Sentences

No. Mutations Sentence Comment

46 ABCC8 p.Arg168Cys Molecular genetic analysis: Sequencing analysis showed that the infant was heterozygous for two missense mutations, R168C and G1256S, in exons 4 and 31 of the ABCC8 gene. Login to comment 47 ABCC8 p.Arg168Cys ABCC8 p.Arg168Cys The C>T mutation at nucleotide 502 (c.502C>T) results in substitution of cysteine for arginine at codon 168 (p.Arg168Cys) and has been reported previously in a patient with CHI [5].The G>Amutation at nucleotide 3766 (c.3766G>A) results in the substitution of serine for glycine at codon 1256 (p.Gly1256Ser), and has been identified in another patient with PNDM (Flanagan and Ellard, unpublished data). Login to comment 48 ABCC8 p.Arg168Cys Testing of parents showed that the father was heterozygous for the missense mutation G1256S while the mother was heterozygous for the missense mutation R168C, implying that father was a carrier of NDM while mother was a carrier of CHI. Login to comment