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• W2899780469 abstract "Congenital hypogonadotrophic hypogonadism ( CHH ) is a challenging inherited endocrine disorder characterised by absent or incomplete pubertal development and infertility as a result of the low action/secretion of the hypothalamic gonadotrophin‐releasing hormone (Gn RH ). Given a growing list of gene mutations accounting for CHH , the application of massively parallel sequencing comprises an excellent molecular diagnostic approach because it enables the simultaneous evaluation of many genes. The present study proposes the use of whole exome sequencing ( WES ) to identify causative and modifying mutations based on a phenotype‐genotype CHH analysis using an in‐house exome pipeline. Based on 44 known genes related to CHH in humans, we were able to identify a novel homozygous gonadotrophin‐releasing hormone receptor ( GNRHR) p.Thr269Met mutant, which segregates with the CHH kindred and was predicted to be deleterious by in silico analysis. A functional study measuring intracellular inositol phosphate ( IP ) when stimulated with Gn RH on COS ‐7 cells confirmed that the p.Thr269Met Gn RHR mutant performed greatly diminished IP accumulation relative to the transfected wild‐type Gn RHR . Additionally, the proband carries three heterozygous variants in CCDC 141 and one homozygous in SEMA 3A gene, although their effects with respect to modifying the phenotype are uncertain. Because they do not segregate with reproductive phenotype in family members, we advocate they do not contribute to CHH oligogenicity. WES proved to be useful for CHH molecular diagnosis and reinforced its benefit with respect to identifying heterogeneous genetic disorders. Our findings expand the Gn RHR mutation spectrum and phenotype‐genotype correlation in CHH ." @default.
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• W2899780469 date "2018-12-01" @default.
• W2899780469 modified "2023-10-17" @default.
• W2899780469 title "A novel <i>GNRHR</i> gene mutation causing congenital hypogonadotrophic hypogonadism in a Brazilian kindred" @default.
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• W2899780469 doi "https://doi.org/10.1111/jne.12658" @default.
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