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Case Reports
. 2014 Dec;29(12):2838-43.
doi: 10.1093/humrep/deu256. Epub 2014 Oct 14.

A novel MKRN3 missense mutation causing familial precocious puberty

L de Vries  1 , G Gat-Yablonski  2 , N Dror  3 , A Singer  4 , M Phillip  5
Affiliations
Case Reports

A novel MKRN3 missense mutation causing familial precocious puberty

L de Vries et al. Hum Reprod. 2014 Dec.

Abstract

Central precocious puberty may be familial in about a quarter of the idiopathic cases. However, little is known about the genetic causes responsible for the disorder. In this report we describe a family with central precocious puberty associated with a mutation in the makorin RING-finger protein 3 (MKRN3) gene. A novel missense mutation (p.H420Q) in the imprinted MKRN3 gene was identified in the four affected siblings, in their unaffected father and in his affected mother. An in silico mutant MKRN3 model predicts that the mutation p.H420Q leads to reduced zinc binding and, subsequently, impaired RNA binding. These findings support the fundamental role of the MKRN3 protein in determining pubertal timing.

Keywords: central precocious puberty; makorin RING-finger protein 3; maternal imprinting; zinc finger.

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