The MCTP2 gene encodes an integral membrane protein consisting of multiple C2 domains. While the protein is yet to be fully characterized, it is known to bind to calcium ions and is believed to be involved in calcium-mediated signaling.
The gene has been suggested to play a role in Coarctation of the Aorta, a congenital malformation characterized by left heart obstructive defects. This has been further supported by animal studies; knockdown of Mctp2 in Xenopus embryos results in cardiac anomalies such as an absent endocardial cushion and abnormal outflow tract development.
The gene is located on the long arm of chromosome 15. It spans a length of 252.4 kb of DNA and its coding sequence is spread across 30 exons. The protein product encoded by this gene has a molecular mass of 99.5 kDa and consists of 878 amino acids. Several isoforms of the MCTP2 protein exist due to alternatively spliced transcript variants. The gene is found to be widely expressed in the human body. Heterozygous mutations in the gene, such as large deletions, duplications and missense variants, have been linked to Coarctation of the Aorta. However, recent studies have also identified homozygous MCTP2 mutations in affected individuals.
Monies et al. (2017) studied the genomic landscape of Saudi Arabia based on the findings of 1000 diagnostic panels and exomes. One patient, a 16-year-old female from a consanguineous family, presented with severe congenital heart disease, failure to thrive, developmental delay, hearing loss and nephrotic syndrome. Using whole exome sequencing, a homozygous mutation (c.384dupT, p.N128fs) was identified in exon 5 of the patient’s MCTP2 gene. This finding presented a unique case of a recessive mutation in a gene normally associated with a dominant phenotype. Also, as the gene was only tentatively linked to oarctation of the Aorta, this case helped provide confirmation of this association.
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