Hercent Agathe, Ba Ibrahima, Tchernitchko Dimitri
Department of Genetics, Bichat Hospital (APHP), Reference Laboratory for the Diagnosis of Birt Hogg Dube Syndrome, University of Paris Cité, Paris, France.
INSERM U1149, Centre de Recherche Sur l'Inflammation, University of Paris Cité, Paris, France.
Clin Genet. 2025 Jul;108(1):107-108. doi: 10.1111/cge.14737. Epub 2025 Mar 3.
This short letter shows the limited diagnostic utility of PRDM10 screening in patients with a clinical suspicion of BHD syndrome. In a cohort of 313 patients with a suspicion of BHD syndrome and no FLCN mutations, none carry a pathogenic PRDM10 variation.
这封简短的信函表明，对于临床怀疑患有BHD综合征的患者，PRDM10筛查的诊断效用有限。在一组313例怀疑患有BHD综合征且无FLCN突变的患者中，没有一例携带致病性PRDM10变异。
