Thursday, August 22, 2019

Newborn Screening Aids Discovery of Novel Gene Variants

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Thursday, August 22, 2019

Newborn Screening Aids Discovery of Novel Gene Variants

Blood being collected by heel stick for newborn screening

Credit: U.S. Air Force

Variations in a single copy of a gene called FOXN1 can cause a positive newborn screening test for SCID, a life-threatening condition typically treated by bone marrow transplantation. Infants with FOXN1 haploinsufficiency, in which one of two FOXN1 copies harbors mutations that hamper its function, may have low T-cell levels at birth and thus be at increased risk for infections, a new study by NIAID scientists and colleagues has revealed. However, these infants do not have SCID and do not require or benefit from bone marrow transplantation.

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