HSF5 deficiency in humans
A 29-year-old man from a consanguineous family who was diagnosed with primary infertility for three years was recruited for our study. His somatic cell karyotype (46, XY) and hormone levels were normal, and no azoospermia factor (AZF) deletion was detected. To explore the genetic cause of the sterility in this family, we performed WES analysis on the two siblings. A novel homozygous missense mutation, c.586 C>T [p.R196C], in HSF5 was identified in the two patients.