Imagawa-Matsumoto syndrome

Definition:

Imagawa-Matsumoto syndrome is a very rare overgrowth syndrome that resembles Weaver syndrome [DS:H01751]. Mutations in SUZ12 cause this disease. SUZ12 is a core component of polycomb repressive complex 2 (PRC2) along with EZH2 and EED.

References:

[1]. Eri Imagawa, et al. Novel SUZ12 mutations in Weaver-like syndrome. Clin Genet. 2018 Nov;94(5):461-466. [Content Brief]

[2]. Joshua Manor, et al. Overgrowth Syndromes-Evaluation, Diagnosis, and Management. Front Pediatr. 2020 Oct 30;8:574857. [Content Brief]

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