Fig. 2: PLXNA3 variants in patients with idiopathic hypogonadotropic hypogonadism. | Genetics in Medicine

Fig. 2: PLXNA3 variants in patients with idiopathic hypogonadotropic hypogonadism.

From: Loss-of-function variants in SEMA3F and PLXNA3 encoding semaphorin-3F and its receptor plexin-A3 respectively cause idiopathic hypogonadotropic hypogonadism

Fig. 2

(a) The diagram of PLXNA3 showing the positions of the missense variants found in patients. (b) The pedigrees of the four families with PLXNA3 variants are shown. Note that patients in family G in Fig. 1 also have PLXNA3 variants in addition to SEMA3F variants. Affected males and females are represented by black squares and black circles, respectively. White square symbols indicate unaffected male family members, white circle symbols represent unaffected female family members, and the double line indicates consanguinity. Under each symbol are the genotypes in the same order as the gene and variant descriptions, with WT and M denoting wild type and variant, respectively. Since PLXNA3 is on the X chromosome male individuals are expected to have only one allele. IHH idiopathic hypogonadotropic hypogonadism, – denotes allele naturally absent in males as PLXNA3 is on the X chromosome.

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