Fig. 1: Investigation of patient 10–200 carrying the TERB1 variant. | Genetics in Medicine

Fig. 1: Investigation of patient 10–200 carrying the TERB1 variant.

From: Genetic dissection of spermatogenic arrest through exome analysis: clinical implications for the management of azoospermic men

Fig. 1

(a) The pedigree structure shows the segregation of the TERB1 variants (p.R605Ter and p.Leu97Valfs*7). (b) Hematoxylin and eosin (H&E) staining of histological sections from the testis biopsy of the patient carrying the TERB1 variant. Scale bar on the upper image represents 50 µm and on the lower image 20 µm. (c) Immunofluorescent staining of histological sections from the testis biopsy of the patient carrying the TERB1 variant using γH2AX (green, marker for DSBs and XY body), Histone 3 Serine 10 phosphorylation (H3S10p, red, marker of M-phase), and DAPI (blue). Scale bar represents 5 µm. In this patient only a few metaphases were observed (1.1 metaphases/mm2), which were below the normal threshold, based on samples containing meiotic metaphases (4.0–11.5 metaphases/mm2),9 thus representing the mitotic metaphases of spermatogonia. Early cells were observed in almost all the counted tubules. No XY bodies were detected, indicating that the cells fail to reach the pachytene stage. Most of the early cells displayed an aberrant pattern of γH2AX spots. Some cells displayed an aberrant pattern whereby γH2AX patches covered the entire nucleus.

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