Research Article
Discovery of a Novel Variant of SEMA3A in a Chinese Patient with Isolated Hypogonadotropic Hypogonadism
Table 1
Clinical data of the IHH proband carrying SEMA3A variant.
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Normal adult men reference range for testosterone (T) 1.75–7.81 ng/mL, for estradiol (E2) < 53 pg/mL, for luteinizing hormone (LH) 1.2–8.6 mIU/mL, and for follicle-stimulating hormone (FSH) 1.3–19.3 mIU/mL. Dx, diagnosis; KS, Kallmann syndrome; nIHH, normosmic idiopathic hypogonadotropic hypogonadism; HGVS, Human Genome Variation Society; Mat, maternal. Pat, paternal. MAF, minor allele frequency in gnomAD database; Matched, ethnically matched population in gnomAD; All, all populations in gnomAD. ACMG criteria: P, pathogenic; B, benign; U, uncertain significance; LP, likely pathogenic; LB, likely benign. CADD, combined annotation-dependent depletion. CADD, SIFT, PolyPhen2, and MutationTaster (MutationT) were used for in silico prediction for the effect of the variants. SIFT: T, tolerated; D, deleterious. PolyPhen2: B, benign; P, possibly damaging; D, probably damaging. MutationTaster: N, polymorphism; D, disease causing. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||