case_images: PMC7344130_01
case_images: PMC7344130_02
case_images: Identification of sequence variation in ABCC8. Partial sequence of PCR product. Patient has heterozygous for a novel ABCC8 missense mutation, p.Thr1381Asn. The threonine residue at codon 1381 is moderately conserved across species and mutation testing in patient's parents has shown that the p.Thr1381Asn mutation has arisen de novo
case_images: TPA-55-195-g001.jpg
case_images: PMC7344130_02_TPA-55-195-g001.jpg
case_images: F1
case_images: ABCC8, KCNJ11, INS, and EIF2AK3 and the surrounding introns were sequenced using Sanger sequencing. A novel missense heterozygote mutation in the ABCC8 gene was detected (p.Thr1381Asn) (Fig. 1). Taster, PolyPhen-2 and SIFT bioinformatics programs. The parents were negative for the mutation at the sequenced region (Fig. 1).