What is it about?
We describe a new genetic cause of precocious puberty in a family with 5 affected members.
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Why is it important?
A deleterious and complex defect involving an imprinted gene located at long arm chromosome of 14 (DLK1) was associated with female premature sexual development (puberty started before 8 years of age).
Perspectives
A new genetic defect (deletion of DLK1) was associated with familial nonsyndromic central precocious puberty. To date, two paternally-expressed imprinted genes (MKRN3 and DLK1) are implicated with precocious puberty, suggesting a role of genomic imprinting in the regulation of human pubertal time.
Ana Claudia Latronico
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This page is a summary of: Paternally Inherited DLK1 Deletion Associated With Familial Central Precocious Puberty, The Journal of Clinical Endocrinology & Metabolism, January 2017, Endocrine Society,
DOI: 10.1210/jc.2016-3677.
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