Article
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.
Genome medicine - 18 Dec 2024
Pehlivan Davut, Bengtsson Jesse D, Bajikar Sameer S, Grochowski Christopher M, Lun Ming Yin, Gandhi Mira, Jolly Angad, Trostle Alexander J, Harris Holly K, Suter Bernhard, Aras Sukru, Ramocki Melissa B, Du Haowei, Mehaffey Michele G, Park KyungHee, Wilkey Ellen, Karakas Cemal, Eisfeldt Jesper J, Pettersson Maria, Liu Lynn, Shinawi Marwan S, Kimonis Virginia E, Wiszniewski Wojciech, Mckenzie Kyle, Roser Timo, Vianna-Morgante Angela M, Cornier Alberto S, Abdelmoity Ahmed, Hwang James P, Jhangiani Shalini N, Muzny Donna M, Mitani Tadahiro, Muramatsu Kazuhiro, Nabatame Shin, Glaze Daniel G, Fatih Jawid M, Gibbs Richard A, Liu Zhandong, Lindstrand Anna, Sedlazeck Fritz J, Lupski James R, Zoghbi Huda Y, Carvalho Claudia M B
Abstract excerpt
BACKGROUND: MECP2 Duplication Syndrome, also known as X-linked intellectual developmental disorder Lubs type (MRXSL; MIM: 300260), is a neurodevelopmental disorder caused by copy number gains spanning MECP2. Despite varying genomic rearrangement structures, including duplications and triplications, and a wide range of duplication sizes, no clear correlation exists between DNA rearrangement and clinical features....
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