Discovery of a Novel Variant of SEMA3A in a Chinese Patient with Isolated Hypogonadotropic Hypogonadism

Figure 1

A novel SEMA3A variant screened in IHH patients. (a) Pedigree analysis of the proband. The proband is indicated by a black arrow. Circles and squares suggest women and men, respectively. (b) Sequence analysis of WT (top) and SEMA3A mutation (bottom). The arrow above the chromatogram indicates the codon affected by the variant. (c) The location of the T457A variant. SEMA, semaphorin domain; PSI, plexin/semaphorin/integrin domain; Ig, immunoglobulin-like domain; C, cysteine residue; IHH, idiopathic hypogonadotropic hypogonadism.

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