The “Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing” is a groundbreaking medical study that showcases the power of genomic technology in diagnosing rare genetic disorders. Through exome sequencing, researchers identified a patient with SRD5A3-CDG1Q, a rare congenital disorder of glycosylation. This disorder affects the glycosylation process, leading to various developmental and neurological issues. The study highlights the significance of precision medicine, as identifying the specific genetic mutation aids in understanding the underlying biology and developing targeted treatments. The findings offer hope for affected individuals and provide invaluable insights into the pathogenesis of rare genetic diseases.
Gupta N, Verma G, Kabra M, Bijarnia-Mahay S, Aparna G. (2018) 147(4):422-426. doi 10.4103/ijmr.IJMR_820_16. PMID:29998879 [Impact factor: 1.51]
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