PMC3037794_01
PMC3037794_02
(A) Nonsense p.Q404X (Gln404Stop) mutation in DAX1. (B) Control sequence (arrow: nucleotide exchange). (C) The mutation, as shown by a red star, is located in the ligand-like binding domain leading to a premature stop codon and predicted non-functional protein.
deq37201.jpg
PMC3037794_02_deq37201.jpg
DEQ372F1
As shown in Fig. 1, a change in nucleotide sequence (c.1210C>T) was identified, leading to a stop codon in position 404 (p.Gln404X).
Seminiferous tubule sections showing (A) Sertoli cells only or an arrest of spermatogenesis at the spermatocyte stage (arrow) in most tubules, and (B) isolated tubules with very rare spermatids (arrow). Few normal Leydig cells were seen. Magnification x400.
deq37202.jpg
PMC3037794_02_deq37202.jpg
DEQ372F2
Tubules were limited by a thickened basement membrane and contained mostly Sertoli cells and a few germ cells arrested at the spermatocyte stage (Fig. 2). 