Spermatogenic Failure 36

A number sign (#) is used with this entry because of evidence that spermatogenic failure-36 (SPGF36) is caused by heterozygous mutation in the PPP2R3C gene (615902) on chromosome 14q13.

Homozygous PPP2R3C mutations in males cause a syndromic form of complete gonadal dysgenesis that includes dysmorphic facies, retinal dystrophy, and myopathy (GDRM; 618419).

Description

Spermatogenic failure-36 (SPGF36) is characterized by reduced fertility due to teratozoospermia, with spermatozoa showing anomalies of the head, acrosome, and nucleus (Guran et al., 2019).

For a general description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150).

Clinical Features

Guran et al. (2019) studied 3 unrelated Turkish men with infertility or reduced fertility. Each was father to a 46,XY daughter with syndromic complete gonadal dysgenesis (GDRM). Semen analysis in the fathers showed normal volume and concentration with normal sperm motility, but most sperm (96 to 99%) were teratozoospermic, with mild to severe anomalies of the sperm head and severe acrosomal and nuclear anomalies. In each family there was a history of multiple infertile couples, but other relatives were unavailable for testing.

Molecular Genetics

In 3 unrelated Turkish men with teratozoospermia and infertility or reduced fertility, Guran et al. (2019) identified heterozygosity for 3 different missense mutations in the PPP2R3C gene (615902.0001-615902.0003). Their 46,XY daughters with GDRM were homozygous for the mutations.