Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
May 2023
in “
European Journal of Human Genetics
”
TLDR Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
The 55th European Society of Human Genetics Conference presented several studies on various genetic disorders. One study found a significant association between rare ULBP3 variants and Alopecia areata in 1,000 patients, suggesting these variants could increase disease susceptibility. Another study identified a heterozygous deletion in the FAS gene in a patient with Autoimmune lymphoproliferative syndrome, indicating this mutation could lead to a dysfunctional FAS protein. A study involving a couple with a sickle cell trait and their fetus concluded that individuals heterozygous for the HPFH-2 Ghanaian deletion have normal hematology, while those homozygous for the HBB c.20A>T p.(Glu7Val) variant have sickle cell disease.
