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Article

Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.

American journal of medical genetics. Part A - 1 Oct 2022

Cooley Coleman Jessica A, Fee Timothy, Bend Renee, Louie Raymond, Annese Fran, Stallworth Jennifer, Worthington Jessica, Buchanan Caroline Black, Everman David B, Skinner Steven, Friez Michael J, Jones Julie R, Spellicy Catherine J

Abstract excerpt

Rett (RTT) syndrome, a neurodevelopmental disorder caused by pathogenic variation in the MECP2 gene, is characterized by developmental regression, loss of purposeful hand movements, stereotypic hand movements, abnormal gait, and loss of spoken language. Due to the X-linked inheritance pattern, RTT is typically limited to females. Recent studies revealed somatic mosaicism in MECP2 in male patients with RTT-like...

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PMID: 35924478
DOI: 10.1002/ajmg.a.62913

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