A 14-Year-Old Saudi Boy with Gynecomastia, Cushing Syndrome, Large-Cell Calcifying Sertoli Cell Tumor of the Testis, and Carney Complex

27 December 2022: Articles

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).