27 December 2022>: Articles
A 14-Year-Old Saudi Boy with Gynecomastia, Cushing Syndrome, Large-Cell Calcifying Sertoli Cell Tumor of the Testis, and Carney Complex
Challenging differential diagnosis, Rare disease
Tahrir Khalf Alruwaili A , Khalid Ibrahim Alkanhal A , Anas M. AlShoomi D , Deemah Ali Almanie E , Moaad Hassan Alahmed B*DOI: 10.12659/AJCR.937404
Am J Case Rep 2022; 23:e937404
Table 2. Gene finding description.
Gene | Variant coordinates | Amino acid change | SNP identifier | Zygosity | Type and classification |
---|---|---|---|---|---|
PRKAR1A | NM_001276289.1: c.682C >T | p.(Arg228) | RS281864784 | Heterozygous | Nonsense Likely Pathogenic |
PRKAR1A – Protein Kinase CAMP-Dependent Type 1 Regulatory Subunit Alpha, SNP – single nucleotide polymorphism. Molecular analysis, using a next-generation sequencing (NGS) panel for LCCST, identified heterozygous pathogenic variant in the gene (nonsense mutation at nucleotide number 682 with change of nucleobase cytosine to thiamine, resulting of amino acid change to arginine). |