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

Table 2

All SEMA3A variants reported associated with Kallmann syndrome.

Mutation site	Domain involved	Gender	Inheritance	Gonadal dysplasia	Olfactory state	Additional anomalies	Additional related mutation
c.196C > T (p.R66W)	Sema	M	U	Yes	A	No	PROKR2 p.L218P
		U	U	Yes	U	U	No
c.245T > G (p.L82R)	Sema	U	U	Yes	U	U	SEMA3A p.R66W
c.458A > G (p.N153S)	Sema	F	Inherited	Yes	U	Clift lip and dental agenesis	FGFR1 p.R609
	Sema	2M	U	Yes	U	U	No
c.814G > T (p.D272Y)	Sema	M	Inherited	Yes	H	No	No
c.869G > A (p.R290H)	Sema	M	U	Yes	A	No	No
c.1025T > C (p.M342T)	Sema	U	U	Yes	U	U	No
c.1198A > G (p.I400V)	Sema	M	U	Yes	U	U	PROKR2 p.R268C
c.1253A > G (p.N418S)	Sema	F	Inherited	Yes	U	No	FGFR1 p.S436Yfs3
c.1340A > G(p.D447G)	Sema	U	U	Yes	U	U	No
c.1372G > T (p.V458I)	Sema	M	Inherited	Yes	U	Cryptorchidism	No
c.1450C > T(p.R484W)	Sema	U	U	Yes	U	U	No
c.1971A > G (p.I657M)	Ig	U	U	Yes	U	U	No
c.2062A > G (p.T688A)	Interdomain	M	U	Yes	U	U	KAL1 p.Y217D
c.2189G > A(p.R730Q)	Basic motif	F	U	Yes	U	U	No
		U	U	Yes	U	U	No
c.2198G > A (p.R733H)	Basic motif	M	U	Yes	U	U	No
c.2201G > A(p.R734Q)	Basic motif	U	U	Yes	U	U	U
c.1360 + 2T > G	Sema	U	U	Yes	U	U	U
c.1613_1626del14 (p.Asp538Valfs31)	PSI	M	U	Yes	U	U	No
213 kb incl. Ex. 7–17	Sema, PSI, Ig	2M	Inherited	Yes	H	No	No
		F	Inherited	Yes	A	No	No

M: male; F: female; U: unknown; H: hyposmia; A: anosmia.