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Germline CDKN1B loss-of-function variants cause pediatric Cushing disease with or without an MEN4 phenotype

Journal of Clinical Endocrinology and Metabolism Apr 03, 2020

Chasseloup F, Pankratz N, Lane J, et al. - In the present study, the researchers sought to screen a large cohort of Cushing disease (CD) patients for CDKN1B gene defects and to assess their functional impacts. Two hundred eleven CD patients (94.3% pediatric) were screened by germline whole-exome sequencing (WES) only (n = 157), germline and tumor WES (n = 27), Sanger sequencing (n = 6) and/or germline copy number variant (CNV) analysis (n = 194). According to findings, five patients with CD and germline CDKN1B variants of uncertain significance (n = 2) or pathogenic/likely pathogenic (n = 3) have been identified, accounting for 2.6% of the patients screened. The finding that germline CDKN1B loss-of-function may pose as a seemingly sporadic, isolated pediatric CD has major implications for clinical screening and genetic counselling.

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