Description
p.Pro308Leu (CCG>CTG): c.923 C>T in exon 9 of the CASQ2 gene (NM_001232.3). The Pro308Leu mutation in the CASQ2 gene has been reported in association with CPVT. DeLa Fuente et al. (2008) reported a 30 year-old man diagnosed with CPVT harboring the Pro308Leu mutation in the CASQ2 gene, as well as another missense mutation (Tyr55Cys), consistent with an autosomal recessive form of inheritance. The same study reported that the Pro308Leu mutation was not present in 500 control alleles and the patient's daughter, who harbored only the Pro308Leu mutation, was asymptomatic at age 7. Additionally, the Pro308 residue is highly conserved throughout evolution. Of note, Lahat et al. (2001) described a missense mutation in CASQ2 adjacent to this codon (Asp307His) that is located in the interdomain space of the protein. Asp307His was seen in a homozygous state in several consanguineous families with CPVT, further supporting the functional importance of this region of the protein, and the autosomal recessive inheritance model. As CPVT due to mutations in the CASQ2 gene is an autosomal recessive disease, it is expected that an affected individual would harbor mutations in the CASQ2 gene on both alleles.The variant is found in CPVT panel(s).
# | Sample | Method | Observation |
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Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences |
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1 | germline | yes | not provided | not provided | not provided | | not provided | not provided | not provided | not provided |