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Mutational analysis of TAC3 and TACR3 genes in patients with idiopathic central pubertal disorders.
MedLine Citation:
PMID:  23329188     Owner:  NLM     Status:  In-Data-Review    
Abstract/OtherAbstract:
OBJECTIVE: To investigate the presence of variants in the TAC3 and TACR3 genes, which encode NKB and its receptor (NK3R), respectively, in a large cohort of patients with idiopathic central pubertal disorders.
SUBJECTS AND METHODS: Two hundred and thirty seven patients were studied: 114 with central precocious puberty (CPP), 73 with normosmic isolated hypogonadotropic hypogonadism (IHH), and 50 with constitutional delay of growth and puberty (CDGP). The control group consisted of 150 Brazilian individuals with normal pubertal development. Genomic DNA was extracted from peripheral blood and the entire coding region of both TAC3 and TACR3 genes were amplified and automatically sequenced.
RESULTS: We identified one variant (p.A63P) in NKB and four variants, p.G18D, p.L58L (c.172C>T), p.W275* and p.A449S in NK3R, which were absent in the control group. The p.A63P variant was identified in a girl with CPP, and p.A449S in a girl with CDGP. The known p.G18D, p.L58L, and p.W275* variants were identified in three unrelated males with normosmic IHH.
CONCLUSION: Rare variants in the TAC3 and TACR3 genes were identified in patients with central pubertal disorders. Loss-of-function variants of TACR3 were associated with the normosmic IHH phenotype. Arq Bras Endocrinol Metab. 2012;56(9):646-52.
Authors:
Cintia Tusset; Sekoni D Noel; Ericka B Trarbach; Letícia F G Silveira; Alexander A L Jorge; Vinicius N Brito; Priscila Cukier; Stephanie B Seminara; Berenice B de Mendonça; Ursula B Kaiser; Ana Claudia Latronico
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Arquivos brasileiros de endocrinologia e metabologia     Volume:  56     ISSN:  1677-9487     ISO Abbreviation:  Arq Bras Endocrinol Metabol     Publication Date:  2012 Dec 
Date Detail:
Created Date:  2013-01-18     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0403437     Medline TA:  Arq Bras Endocrinol Metabol     Country:  Brazil    
Other Details:
Languages:  eng     Pagination:  646-52     Citation Subset:  IM    
Affiliation:
Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.
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