TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

doi:10.1093/hmg/ddaa120

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Article

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal loci.

Human molecular genetics - 11 Aug 2020

Davis Erica E, Balasubramanian Ravikumar, Kupchinsky Zachary A, Keefe David L, Plummer Lacey, Khan Kamal, Meczekalski Blazej, Heath Karen E, Lopez-Gonzalez Vanesa, Ballesta-Martinez Mary J, Margabanthu Gomathi, Price Susan, Greening James, Brauner Raja, Valenzuela Irene, Cusco Ivon, Fernandez-Alvarez Paula, Wierman Margaret E, Li Taibo, Lage Kasper, Barroso Priscila Sales, Chan Yee-Ming, Crowley William F, Katsanis Nicholas

Abstract excerpt

Dysfunction of the gonadotropin-releasing hormone (GnRH) axis causes a range of reproductive phenotypes resulting from defects in the specification, migration and/or function of GnRH neurons. To identify additional molecular components of this system, we initiated a systematic genetic interrogation of families with isolated GnRH deficiency (IGD). Here, we report 13 families (12 autosomal dominant and one...

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PMID: 32620954
DOI: 10.1093/hmg/ddaa120
PMCID: PMC7608740

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