Evidence map›Paper›PMID 42378175›Full record

ArticleNeuroendocrinology2026

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Article in Neuroendocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

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6 · The paper itself

Abstract

In the article "Expanded Targeted-Exome Sequencing and Functional Validation Improve Molecular Diagnosis and Refine Genotype-Phenotype Correlations in Congenital Hypogonadotropic Hypogonadism" [Neuroendocrinology. 2026;116(1):1-17; https://doi.org/10.1159/000548348] by Fausto et al., the authors identified an error in the nomenclature of the protein variant associated with the genetic variant.The authors note that the variant affects the stop codon (Ter / *) at position 139, converting it to a Trp codon (a no-stop variant) and resulting in a C-terminal extension of the protein. Translation continues for seven amino acids beyond the original termination site before reaching a new stop codon (Ter / *) at position 7 of the added sequence. Accordingly, the protein change should be corrected from p.*139Trpext*41 to p.*139Trpext*7, following the recommendations of the Human Genome Variation Society (HGVS) protein extension nomenclature guidelines (https://hgvs-nomenclature.org/stable/recommendations/protein/extension/).The corrected Table 2 is shown here.Table 2.Novel and known pathogenic/likely pathogenic variants and VUS identified by the 52-gene CHH exome panel in our cohort of 35 patients with CHHIDFamilial historyGeneVariantTypeZygosityMAF (GnomAD/AbraOM)ACGMReference1sporadicSPRY4c.19A>Gmissensehtz<0.005/NRVUS (PM2, BP4)Novelp.Thr7Ala2sporadicIL17RDc.1705C>Tmissensehtz<0.02/NRVUS (PM2, BS2, BP1, BP4)Novel (RCV:004212115.1)p.Pro569Ser3sporadicWDR11c.1303G>Amissensehtz<0.015/NRPathogenic (PS1, PS3)[42]p.Ala435Thr4sporadicANOS1c.1369C>TnonsensehmNR/NRPathogenic (PVS1, PS1)[43]p.Arg457*5sporadicCHD7c.2978A>Tmissensehtz<0.007/NRVUS (PM1-PM2-PP3)Novelp.Asp993ValPCSK1c.239G>Amissensehtz<0.007/NRLikely pathogenic (PS1, PM2, PM5)[44]p.Arg80Gln6familialKISS1c.417delAnostop (stoploss)htz<0.001/0.206VUS (PM2, PM4)Novel (RCV: 001730690.2)p.*139Trpext*77sporadicTACR3c.1115G>Amissensehtz<0.004/NRVUS (PM2, PP2, PP5)Novelp.Arg372His8familialPROKR2c.802C>Tmissensehtz<0.01/0.009VUS (PS3)[61]p.Arg268Cys9sporadicIGSF10c.467G>Tmissensehtz<0.005/0.002VUS (PM1, PM2, PP5, BP1)Novelp.Arg156Leu10sporadicPROKR2c.868C>Tmissensehtz<0.01/NRPathogenic (PS1, PM1, PM2, PP2, PP3, PP5)[15, 45, 47]p.Pro290Ser11familialGNRHRc.806C>Tmissensehm<0.0002/NRPathogenic[21, 48]CHD7p.Thr269Metmissensehtz<0.001/NRVUS (PM2,BP4)Novel (RCV: 000819615.6)GHSRc.577A>Gmissensehtz0.003/0.0016VUS (PM2, BP4)Novel (RCV: 001149557.4)KISS1p.Met193Valmissensehtz0.01/0.006VUS (PP3)Novel (RCV: 003730668.1)MSX1c.10 72G>Amissensehtz0.001/NRVUS (PM2, PP3)Novel (RCV: 000983935.6)SEMA3Ap.Ala358Thrmissensehm0.01/0.008VUS (PP3)Novel (RCV: 002489291.1)c.268C>Tp.His90Aspc.821C>Tp.Ala274Valc.1000A>Gp.Ile334Val12familialKISS1Rc.608C>Amissensehm<0.007/NRLikely pathogenic (PS3, PM1, PM2, PP2)present studyp.Ala203Asp13sporadicANOS1c.712C>TnonsensehtzNR/NRPathogenic (PVS1, PM2, PP3)Novelp.Gln238*14sporadicOTUD4c.910G>Amissensehtz<0.003/0.0008VUS (PM2, BP4)NovelSPRY4p.Thr349Promissensehtz<0.004/NRLikely pathogenic (PS1, PM1, PM2)[35]c.824G>Ap.Val304Ile15sporadicCHD7c.2199dupduplicationhtz<0.01/NRPathogenic (PVS1, PM2, PP4)NovelTACR3p.Ser734Ilefs*5nonsensehtz<0.01/NRPathogenic (PVS1, PS1, PM2, BP4)[49, 50]c.824G>A p.Trp275*17sporadicCHD7c.3299G>Amissensehtz<0.003/0.0008VUS (PM2, PP3)Novel (RCV: 000326831.5)POLR3Ap.Arg1100Hismissensehm<0.005/NRVUS (PM2, PP3)Novel (RCV: 003020802.2)c.2444A>Tp.Asn815Ile18familialCHD7c.6989G>Cmissensehtz<0.004/NRVUS (PM2, PP2, PP3)Novel (RCV: 000880727.5)FGFR1p.Gly2330Alaintronic (loss of splice donor site)htzNR/NRPathogenic (PVS1, PM2, PP3)Novelc.1663+5G>A19sporadicSPRY4c.824G>Amissensehtz<0.004/NRLikely pathogenic (PS1, PM1, PM2)[35]p.Val304Ile20sporadicCHD7c.5738T>Cmissensehtz<0.0009/NRVUS (PM2-PP3)Novel (RCV: 002251062.1)DUSP6p.Leu1913Promissensehtz<0.005/0.002VUS (PM2-BP1)Novel (RCV: 003717071.1)c.35C>Tp.Ser12Leu21sporadicGHSRc.545T>Cmissensehtz<0.01/0.0008Likely pathogenic (PS3, PM2, PP3, PP5)NovelPLXNA1p.Val182Alamissensehtz<0.005/NRVUS (PM2-BP1)Novel (RCV: 003963777.1)c.3761G>Tp.Gly1254Val22sporadicIGSF1dup chrX: 130,411,829-130,420,648copy number gain (x2)htz<0.001Likely pathogenic (score: 0.9)Novel(8.8 Kb)23familialPROK2c.297dupduplicationhtz0.0104/NRPathogenic (PVS1, PM2, PP3)[8]p.Gly100Trpfs*2224sporadicDMXL2c.3860G>Tmissensehtz<0.052/NRVUS (PM2, PP3)Novel (RCV: 002489372.1)p.Ser1287Ile25sporadicANOS1c.318+2T>CintronichemNR/NRPathogenic (PVS1, PM2, PP3)Novel26sporadicFGFR1c.106G>deldeletionhtzNR/NRPathogenic (PVS1, PM2, PP3)NovelDMXL2p.Ala36Profs*67missensehtzNR/NRVUS (PM2, PP3, BP4)NovelDMXL2c.8624A>Gmissensehtz0.0003/NRVUS (PM2, PP3, BP4)Novel (RCV: 001957785.2)PNPLA6p.Asn2874Sermissensehtz<0.02/NRVUS (PM2, BP1)Novel (RCV: 001338478.4)c.6946T>Cp.Ser2316Proc.3598C>Gp.Gln1200Glu28sporadicCHD7c.2786dupduplicationhtzNR/NRLikely pathogenic (PVS1-PM2)NovelGHSRp.Glu930Argfs*4missensehtz<0.002/NRVUS (PM2,PP3)Novelc.505G>A p.Ala169Thr29familialFGFR1c.630T>Gnonsensehtz<0.002/NRPathogenic (PVS1, PM2, PP3)Novel (RCV: 003234647.1)IGFALSp.Tyr210*missenseNR/NRVUS (PM2, PP3)Novelc.830G>Ap.Arg277His31sporadicCHD7c.1774del: Gln592Serfs*16deletionhtz<0.003/NRPathogenic (PVS1, PM2, PM5)NovelDMXL2del Chr15: 51,785,818-51,868,914copy number loss (83.1 Kb)htzNR/Pathogenic (score: 1.15)NovelDMXL2c.5590A>Gmissensehtz<0.01/NRVUS (PM2, PP3, BP4)Novel (RCV: 002623884.1)p.Thr1864Ala​33sporadicSOX2del chr3: 180,320,049-181,431,102copy number loss (1.1 Mb)htz-Pathogenic (score:1.2)Novel34sporadicCHD7c.6275A>Gmissensehtz<0.001/NRVUS (PM2,PP3)Novelp.Glu2092Gly35sporadicSPRY4c.796G>Amissensehtz<0.001/NRVUS (PM2, PP3)Novelp.Val266MetPatients harboring any variant: 21/35 (60%); total found variants: 49 (46 SNVs and 3 CNVs); pathogenic variants: 16/49 (32.7%); likely pathogenic variants: 6/49 (12.2%); VUS: 27/49 (55.1%). NR, not reported in the GnomAD or AbraOM dataset; RCV, Reference ClinVar.

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PMID42378175

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.