Publications by authors named "Christian Neckelmann"
Cosmc, encoded by the X-linked C1GALT1C1, is a molecular chaperone in the endoplasmic reticulum and a master regulator of O-glycosylation of mammalian glycoproteins. Recently, we described a germline mutation in C1GALT1C1 in two male patients, giving rise to a congenital disorder of glycosylation-COSMC-CDG. Here, we have identified a female patient with a de novo mosaic variant in C1GALT1C1 (c.
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- - Variants of Uncertain Significance (VUS) are frequent outcomes of genetic testing and can lead to misinterpretation and unnecessary costs for clinicians.
- - A study analyzed over 1.5 million genetic test results, revealing that exome and genome sequencing had a lower rate of inconclusive results (22.5%) compared to multi-gene panels (32.6%).
- - The findings suggest a need to reevaluate how VUS are reported and propose strategies to lower VUS rates while ensuring clinicians focus on significant cases.