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. 2019 Jan 12;21(8):1808–1820. doi: 10.1038/s41436-018-0416-7

Fig. 2.

Fig. 2

Clinical and molecular features associated with a splice-site variant in the 5’ donor site of KCNQ1 first intron. a Pedigree of the family. The proband (III-1) affected by Beckwith–Wiedemann syndrome (BWS) and long QT syndrome 1 (LQTS1) is indicated as in Fig. 1. The symbol with stripes indicates the LQTS1 condition affecting the proband’s mother (II-2), who is a carrier of the splice-site variant. The symbol with a dot in the middle indicates the silent carrier of the splice-site variant. Black triangle: male fetus with large omphalocele, demised in utero at 5 months of gestation. White triangles: spontaneous miscarriages. III-4: Stillborn (SB) twin. Asterisks: individuals unavailable for molecular analysis. b Methylation analysis of IC2 and IC1, as determined by pyrosequencing. Each dot represents the methylation value of a CpG. Ctrl: unrelated healthy individual. c Electropherogram showing the novel variant (KCNQ1-ENST00000155840: c.386+1G>C [IVS1+1G>C], GRCh37/hg19 chr11: 2,466,715) located at the donor splice site of the first intron of KCNQ1. The splice-site variant was found in heterozygosity in III-1, II-2, and I-1, but was absent in III-2 and I-2.