Čes-slov Pediat 2025, 80(90):28-31 | DOI: 10.55095/CSPediatrie2025/046

Eliška is the spitting image of her mother - or the long road to diagnosis. Imagawa-Matsumoto Syndrome (IMMAS)

Ivana Röschlová¹, Marie Holbová²

¹ Dětská endokrinologická ambulance, Frýdek-Místek

² Ambulance lékařské genetiky, Frýdek-Místek

The authors present case report of a mother and a daughter with a highly similar phenotype of generaliz

ed overgrowth, musculoskeletal abnormalities, multiple dysmorphic features, recurrent respiratory tract infections, a range of neurodevelopmental and psychosocial difficulties, congenital heart defects and urogenital tract malformations. Following multiple genetic testing, whole-exome sequencing identified the same variant, c.370A>T, in the SUZ12

gene in both patients. This gene encodes a subunit of the polycomb repressive complex 2 (PRC2) which plays a crucial role in the regulation of gene expression during development.

Variants of SUZ12 are associated with Imagawa-Matsumoto syndrome, a rare genetic condition with an estimated incidence of approximately 1 in 1,000.000. This case highlights the importance of novel genetic methods in diagnostic process of rare diseases.

Keywords: overgrowth, dysmorphic features, congenital anomalies, SUZ12, Imagawa-Matsumoto syndrome, whole-exome sequencing

Received: August 28, 2025; Revised: August 28, 2025; Accepted: September 17, 2025; Published: September 1, 2025  Show citation