Broadening the Phenotype Spectrum of MECP2 Variants in Men.

ABSTRACT:

Background

MECP2 variants cause X-chromosome-linked rare developmental syndromes. Typically, the mutation is sporadic, occurs in females and is fatal in men. Accurate genetic and clinical diagnostics are considered essential for the management of symptoms and the development of new treatments. These aims may be difficult to reach before more is known about factors resulting in highly variable clinical pictures among patients carrying the same MECP2 variant. We describe the clinical picture of two brothers carrying the same MECP2 variant and compare them with cases published in the literature.

Methods

Most of the MECP2 mutations are known to be de novo mutations, which is why the recurrence of the mutation in the couple's other children is unlikely. Unexpectedly, our routine

SUBMITTER: Lotjonen J 

PROVIDER: S-EPMC11780493 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature