Central precocious puberty as the initial manifestation of multisystem involvement caused by de novo heterozygous KMT2B mutation and STS hemizygous deletion: a case report.

Abstract excerpt

Background: Pathogenic loss-of-function variants in the KMT2B gene cause a rare autosomal dominant disorder with two major phenotypes: KMT2B-related dystonia (DYT-KMT2B) and KMT2B-related neurodevelopmental disorder (KMT2B-NDD). Central precocious puberty (CPP) has been documented as a comorbidity in patients with DYT-KMT2B, but has not been reported as the primary clinical manifestation of the disorder in...

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