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Fig. 1 | BMC Medical Genetics

Fig. 1

From: A novel splice site indel alteration in the EIF2AK3 gene is responsible for the first cases of Wolcott-Rallison syndrome in Hungary

Fig. 1

Genetic alteration in the members of the affected family determined by DNA analysis. Altogether 9 of the presented 10 family members were subject of the genetic analysis (a). Compared to the wild type sequence (b) Patient 1 was homozygous (c) while the mother (e), father, one of the brothers and one of the half-sisters were heterozygous carriers of the observed genetic alteration [g.53051_53062delinsTG (Ref Seq: NG_016424.1)] based on genomic DNA (“gDNA”) sequencing using DNA isolated from peripheral leukocytes. In the case of Patient 2, only formalin fixed paraffin-embedded tissues were available, therefore, DNA was isolated from these archived liver sections and the region of the variation was amplified by a special PCR. Sequencing of these amplified fragments proved that Patient 2 was also homozygous for the genetic alteration present in the family (d). The red boxes show the deleted nucleotides (b) and the inserted “TG” base pair (c,d). Nt: Not tested

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