Novel variants ensued genomic imprinting in familial central precocious puberty

ConclusionsThe frequencies were 5.5% (1/18) forMKRN3 11% (2/18) forDLK1, and none for eitherKISS1,KISS1R, andPROKR2. Low serum DLK1 levels in affected individuals supported the relationship between here described novelDLK1 gene variants with CPP. Nonsense nature of c.357C>G/p.(Tyr119Ter) and an alteration in the evolutionarily conserved nucleotide c.67+78C>T suggested the disruptive nature of the variant's compatibility with CPP.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research