Fig. 1: SEMA3F variants in the etiology of idiopathic hypogonadotropic hypogonadism. | Genetics in Medicine

Fig. 1: SEMA3F variants in the etiology of 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. 1

(a) The variants are depicted on the functional gene diagram of SEMA3F. (b) The pedigrees of seven families with SEMA3F variants are shown. 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. IHH idiopathic hypogonadotropic hypogonadism, ND not determined, – denotes allele naturally absent in males as PLXNA3 is on the X chromosome. (c) The T2-weighted magnetic resonance image (MRI) from a healthy control (A) and from patient D II-2 (B). The arrows point to normal (A) and aplastic olfactory bulbs (B).

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