Table 2 Sibling histopathology and testis-specific gene enrichment of the five candidate nonobstructive azoospermia genes

From: Point-of-care whole-exome sequencing of idiopathic male infertility

Family ID

Sibling histopathology a

Candidate gene

Testis enrichment ratio b

Previous murine evidence c

NOA001

MA; MA

TEX14

120

Mouse—meiosis I arrest due to absence of intracellular bridges30

NOA002

MA; MA

SPO11

66

Mouse—meiosis I arrest during prophase38

NOA004

SCO; SCO

NANOS2

31

Mouse—complete absence of germ cells39

NOA006

NA

WNK3

6.3

Mouse—activator of Nkcc1; Nkcc1-deficient mice have no spermatozoa due to failure of spermatogenesis33

NOA008

MA; MA

CCDC155

78.8

Mouse—meiosis I arrest during prophase due to failure of homologous chromosomes to pair40

  1. For each family, the histopathology findings of the affected siblings are shown along with the candidate genes, their testis-specific enrichment, and previously described murine evidence for a role in infertility.
  2. MA, maturation arrest; NA, no histopathology available; SCO, Sertoli cell only.
  3. aHistopathology if available on the affected brothers.
  4. bFor each gene retrieved from the Human Protein Atlas,29 the ratio of expression in testis to the expression level in the second highest site of expression among all 32 available tissues. Also see Figure 2b.
  5. cPrevious evidence linking the gene to infertility in mice.
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