Heterozygous Deletions in MKRN3 Cause Central Precocious Puberty Without Prader-Willi Syndrome.

ABSTRACT: Loss-of-function mutations in the imprinted genes MKRN3 and DLK1 cause central precocious puberty (CPP) but whole gene deletions have not been reported. Larger deletions of the chromosome 15q11-13 imprinted locus, including MKRN3, cause Prader-Willi syndrome (PWS). CPP has been reported in PWS but is not common, and the role of MKRN3 in PWS has not been fully elucidated. To identify copy number variants in puberty-related, imprinted genes to determine their role in CPP. Probands with idiopathic CPP had chromosomal microarray (CMA) and targeted deletion/duplication testing for MKRN3 and DLK1. Sixteen female probands without MKRN3 or DLK1 variants identified by Sanger sequencing were studied. Whole gene deletions of MKRN3 were identified in 2 subjects (13%): a complete deletion of MKRN3 in P

SUBMITTER: Meader BN 

PROVIDER: S-EPMC7324050 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature