Molecular Biology of the Kisspeptin Receptor: Signaling, Function, and Mutations - Kisspeptin Signaling in Reproductive Biology - page 138

Table 7.1 KISS1 and KISS1 R mutations associated with idiopathic hypogonadotropic hypogonadism or idiopathic central precocious puberty
Disorder DNA mutation Protein mutation Location Inheritance mode Status Affected KISS1R Signaling Reference

IHH 443T>C Leu148Ser (highly

conserved)

ICL-2 Autosomal recessive Familial 4 males + 2

females

Impaired G protein
signaling
(inositol phos-
phate + pERK);
↓

[ 9 , 66 ]

membrane
localization

305T>C Leu102Pro ECL-1 (beginning) Autosomal recessive Familial 1 males + 2

females
(less severe
in sisters)

Impaired G protein
signaling

[ 14 ]

305T>C Leu102Pro ECL-1 (beginning) Autosomal recessive Familial 1 female Impaired G protein

signaling

[ 14 ]

T815>C Phe272Ser TM-6 (beginning) Autosomal recessive Familial 5 males + 1

female
(less severe
in sister)

Impaired G protein
signaling; no
membrane
localization

[ 11 ]

345C>G N115K-KiSS-1

(highly
conserved)

within the
decapeptide

Autosomal recessive Familial 4 females Impaired G

protein signaling
(

[ 18 ]

inositol phos-
phate production)

↓

IVS4-13-
142del15

truncated protein
(presumed)

ICL-3 Autosomal recessive Familial 4 males + 1

female

Not tested [ 8 ]

IVS2-4-2delGC
insACCG-
GCT

aberrant protein
(presumed)

3 ′ -end splice

site - intron2

Autosomal recessive Familial 2 males Not tested [ 15 ]