Table 8.

Epidermolysis Bullosa with Pyloric Atresia: Gene-Specific Laboratory Considerations

Gene 1Special Consideration
ITGA6 2 transcript variants encoding 2 different isoforms have been reported. The cDNA of variant 1 comprises 5,680 bp w/an open reading frame of 3,273 nucleotides encoding 1,091 amino acids in 26 exons. Transcript variant 2 contains an alternate coding exon from variant 1 that results in a frameshift & is encoded in a 5,810-bp cDNA. The resulting protein isoform B is shorter (1,073 amino acids) than isoform A & has a distinct C terminus.
ITGB4 2 splicing variants express different isoforms of the protein [Pulkkinen et al 1997]. The most common epidermal variant does not express exon 33.
PLEC Expression of the different isoforms results from alternative splicing of exon 1 as well as use of different 5' untranslated regions. At least 11 variant transcripts have been described. There is also a transcript lacking exon 31.

Genes from Table 1 in alphabetic order

From: Epidermolysis Bullosa with Pyloric Atresia

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