An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family

Table 2

Reported mutations in the KISS1R gene.

DNA mutation	Protein mutation	Functional analysis	Ethnic origin	Ref.
IVS2-4_-2del GCA ins ACCGGCT	Four different abnormal proteins	ND	Brazilian	[14]
c.305C>T	L102P	ND	Saudi Arabian	Present study
c.305C>T	L102P	IP accumulation; residual activity	Arabs	[5, 12]
c.345C>G	p.C115T	No response in luciferase	Caucasian	[12]
c.443T>C	p.L148S	IP accumulation; decreased activity	Saudi Arabian	[1]
155-bp deletion	p.247X	ND	Caucasian	[7]
c.754G>C	p.E252Q	IP accumulation	Brazilian	[14]
c.T815>C	p.F272S	IP accumulation; residual activity	Arabs	[15]
c.1001–1002insC	p.334fsinC.	ND	German	[16]
c.1079A>T	p.H360L	ND	Caucasian	[17]
c.1157G>C	p.R386P	Reduction in the rate of desensitization	Brazilian	[18]
c.667T>C	p.C223R	Ca^2+ mobilization; low activity	Jamaican-Turkish	[19]
c.891G>T	p.R297L	Ca^2+ mobilization; low activity	Jamaican-Turkish	[19]
c.991C>T	p.R331X	IP accumulation	Black	[1]
c.1195T>A	p.X399A	IP accumulation; low activity	Black	[1]
c.244 + 5G>A	p.?	ND	Caucasian	[12]
c.285C>G	p.Cys95Trp	No response in luciferase assays	Caucasian	[12]
c.309C>A	p.Tyr103	No response in luciferase assays	Caucasian	[12]
c.527C>G	p.Pro176Arg	No response in luciferase assays	Caucasian	[12]
c.860C>A	p.Ala287Glu	Shifted response in luciferase assays	Caucasian	[12]
c.113G>C	p.Arg38Pro	ND	Caucasian	[12]
c.137C>A	p.Pro46Gin	ND	Caucasian	[12]
c.374C>T	p.Ser125Leu	ND	Caucasian	[12]
c.592C>G	p.Arg198Gly	ND	Caucasian	[12]
c.969C>A/c.170T>C	p.Y323X/p.L57P	ND	Turkish	[20]
c.440C>T	p.P147L	Impaired receptor function	Japanese	[21]
c.937T>C	p.Tyr313His	ND	Portuguese	[22]
c.305T>C/c.1195T>A	p.L102P/Stop399A	No response in luciferase assays	French	[22]
c.1195T>C	p.X399R	ND	Tunisian	[23]
	R139C	Abolished membrane expression	Turkish	[24]

ND, not done; Ref, references.