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Pre-RNA splicing is a transcriptional process whereby introns are removed fi"om a primary transcript and exons are joined to generate a mature protein-coding mRNA transcript. The reaction is initiated by transcripts binding to spliceosomal protein complexes that recognize splice site signals at exon/intron boundaries (1). The ftexibility of splice sites in individual genes facilitates complex gene regulation and protein diversity by altemative splicing (2). Alterations in splice site selection, can be affected by gene mutations and may cause splicing modifications. A new "cryptic" splice site can replace the original because of a change in spliceosome affinity (3) and has pathogenic consequences if there is an amino acid change or a protein truncation. Naevoid basal cell carcinoma syndrome (NBCCS) is caused by germline mutations in the patched protein homolog I (PTCHl) (4, 5). NBCCS is characterized by a predisposition to neoplasms and a range of developmental anomalies (6), including multiple basal cell carcinomas (BCCs), odontogenic keratocysts, palmoplantar pits and bifid ribs. PTCHl is located on chromosome 9q22.3 (7), where it encodes a receptor protein for the hedgehog signalling pathway (8) that plays an important role in developmental processes such as cell polarity and pattern formation (9). This study tested the benefits of additional mRNA analysis in a NBCCS patient in whom a mutation was identified by genomic sequencing as splicing aberration.

Splicing Aberration in Naevoid Basal Cell Carcinoma Syndrome