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Figure 4 | Orphanet Journal of Rare Diseases

Figure 4

From: Phenotypic and molecular insights into CASK-related disorders in males

Figure 4

Transcript analysis of the CASK gene. A, B, C and D. Schematic representation of CASK transcript variants and representative RT-PCR products in patients 1, 2, 5 and 8. CASK exons are indicated by boxes: green boxes represent the coding region, blue boxes duplicated coding exons and the light grey box the 5′ untranslated region in exon 1. Primers used for RT-PCR experiments are represented by yellow (forward primer) and red (reverse primer) arrows (see online Additional file 1: Table S1). Premature termination codons are indicated by red stars above the respective transcript variant. CASK transcript analysis was performed using (A) lymphoblastoid cell-derived RNA of patient 8, (B) fibroblast-derived RNA of patient 2 (P2) and three healthy individuals (C2-C4), (C) leukocyte- and fibroblast-derived RNA of patient 5 (P5) and two healthy individuals (C1, C2) and (D) fibroblast-derived RNA of patient 1 (P1) and one healthy individual (C2). RT-PCR products are shown on the right for patients 1, 2 and 5 and healthy individuals as controls. C. A CASK fusion transcript was amplified from RNA isolated from both leukocytes and fibroblasts of patient 5 (left representative agarose gel electrophoresis picture), while a band corresponding to CASK wild-type transcript (from exon 3 to 21) was only generated from fibroblast-derived RNA of the patient (right representative agarose gel electrophoresis picture). A water control (H2O) was used in each RT-PCR reaction. The bright 600 bp reference band of the 100 bp DNA ladder and the 1636 bp band of the 1 kb DNA ladder are indicated by an arrow. del, deletion; nt, nucleotides; bp, base pairs.

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