26 March 2024: Articles
A Rare Case of Neonatal Hypomagnesemia with Secondary Hypocalcemia Caused by a Novel Homozygous TRPM6 Gene Variant
Challenging differential diagnosis, Management of emergency care, Rare disease, Congenital defects / diseases
Mohammed Shahab Uddin A* , AlZahra Y. Alradhi B , Fahad Mushbb N. Alqathani B , Othman Saleh Alessa B , Ahmed Nawfal M. Alshammari B , Ratna Tripathy C , Mohammed Ahmed Alomari ADOI: 10.12659/AJCR.942498
Am J Case Rep 2024; 25:e942498
Figure 2. Whole-exome sequencing analysis of the affected patient led to the identification of the homozygous variant c.5281C>G p. (Arg1761Gly) in the TRPM6 gene (the genomic variant is depicted in blue using IGV software). This cytosine-to-gua-nine substitution variant leads to an amino acid substitution that is predicted to result in a pathogenic effect by 8 out of 22 bioinformatic in silico programs. Allele frequency of this variant in the general population has not been documented (gnomAD v2.1.1 controls).