. Author manuscript; available in PMC: 2014 Jan 12.

Published in final edited form as: Front Horm Res. 2010 Apr 8;39:94–110. doi: 10.1159/000312696

Table 5.

Studies of prevalence of GNRHR mutations.

Author	Sample size of IHH/KS	Mutations in IHH/KS	Prevalence in Normosmic IHH	Method of Analysis
Bhagavath et al[13]	185	3	3/85 (3.5%)	DGGE/ sequencing
Beranova et al[21]	108	5	5/48 (10.4%)	TGGE/sequencing
Lanfranco et al[55]	45	0	0/45 (0%)	SSCP/sequencing
Vagenakis et al[38]	26	0	0/26 0 (0%)	DNA sequencing
Trarbach et al[56]	17	0	0/5(0%)	DNA sequencing
Topaloglu et al	22	1	1/22 (4.5%)	DNA sequencing
Total	403	9/403 (1.5%)	9/231 (3.9%)
Determination of Heterozygous Deletions
Pedersen-White et al[39]	100	No deletions	0	MLPA

DGGE=denaturing gradient gel electrophoresis, TGGE= temperature gradient gel electrophoresis, SSCP= single strand conformation polymorphism; MLPA=multiplex ligation-dependent probe amplification.

To date, there have been no reported GNRHR mutations in 125 anosmic/hyposmic patients. [13, 21]