Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
May 2023
in “
European Journal of Human Genetics
”
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Studysummary This study observed that numerical chromosomal aberrations were more common in men with severe male factor infertility and azoospermia compared to those with other sperm quality issues, while chromosomal translocations were significantly associated with oligoasthenozoospermia, highlighting important genetic counseling considerations.
Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer
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.
