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One Gene – Two Mutational Mechanisms

Sara H El-Dessouky et al.
September 10, 2020

Prenatal delineation of a distinct lethal fetal syndrome caused by a homozygous truncating KIDINS220 variant

For a few genes, mono-allelic gain-of-function mutations as well as bi-allelic loss-of-function mutations have been found to cause disease. Based on findings in a large consanguineous family with multiple stillbirths, KIDINS220 can now be added to this list. A corresponding study, which was triggered by a genetic diagnostic report issued at CENTOGENE, was published in the American Journal of Medical Genetics A.