. Author manuscript; available in PMC: 2013 Jul 16.

Published in final edited form as: Arq Bras Endocrinol Metabol. 2012 Dec;56(9):646–652. doi: 10.1590/s0004-27302012000900008

Table 3.

Variants of TAC3 and TACR3 genes identified in patients with idiopathic central pubertal disorders.

Gene	Nucleotide Change	Amino Acid Change	Status	Exon	Phenotype
*TAC3*
	c.187G>C	p.A63P	Heterozygous	3	Sporadic CPP
*TACR3*
	c.53G>A	p.G18D	Heterozygous	1	Sporadic IHH
	c.[172C>T(;)824G>A]	p.[L58L(;)W275*]	Compound heterozygous	1 and 3	Familial IHH
	c.824G>A	p.W275*	Homozygous	3	Familial IHH
	c.1345G>T	p.A449S	Heterozygous	5	Familial CDGP