Research Article

Identification and Functional Characterization of a Novel Variant in the SEMA3A Gene in a Chinese Family with Kallmann Syndrome

Figure 2

The Chinese family with KS in our study. (a) Pedigree of the family with SEMA3A variant. Squares: males; circles: females; filled symbol: affected; unfilled symbol: unaffected; arrows: proband. (b) Partial DNA sequence diagram of SEMA3A in our case. A novel heterozygous variant (c.814Gā€‰>ā€‰T) in SEMA3A of II-4 and III-1 was identified by WES, causing the substitution of aspartic acid with tyrosine in codon 272, as shown by an arrow.