Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic

Ten girls with sporadic central precocious puberty were screened for mutations in the maternally imprinted gene MKRN3 . We detected 1 novel frameshift mutation (p.Arg351Serfs*44) and a previously described mutation (p.Pro161Argfs*10). In the course of investigating the family, genetic analysis found...

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Bibliographic Details
Published in:The Journal of pediatrics 2016-12, Vol.179, p.263-265
Main Authors: Dimitrova-Mladenova, Mihaela S., MD, Stefanova, Elisaveta M., MD, Glushkova, Maria, MsC, Todorova, Albena P., PhD, Todorov, Tihomir, PhD, Konstantinova, Maia M., MD, Kazakova, Krasimira, MD, Tincheva, Radka S., MD
Format: Article
Language:English
Subjects:
Asymptomatic Diseases
central precocious puberty
Child
Child, Preschool
epigenetic mechanisms
Female
Humans
Male
maternal imprinting
Mutation
novel mutation
Paternal Inheritance
Pediatrics
Pedigree
Puberty, Precocious - genetics
Ribonucleoproteins - genetics
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Summary:Ten girls with sporadic central precocious puberty were screened for mutations in the maternally imprinted gene MKRN3 . We detected 1 novel frameshift mutation (p.Arg351Serfs*44) and a previously described mutation (p.Pro161Argfs*10). In the course of investigating the family, genetic analysis found 2 asymptomatic males with paternally inherited MKRN3 mutations, which has not been reported in previous studies.
ISSN:0022-3476
1097-6833
DOI:10.1016/j.jpeds.2016.08.065