Males with Paternally Inherited MKRN3 Mutations May Be Asymptomatic.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 27640350.
- Also identified by DOI 10.1016/j.jpeds.2016.08.065.
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Abstract
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.
Medical subject headings
- Asymptomatic Diseases
- Mutation
- Paternal Inheritance
- Puberty, Precocious
- Ribonucleoproteins