Abstract
CLOVES syndrome is characterized by congenital lipomatous overgrowth, vascular malformation, epidermal nevi, and scoliosis/spinal malformation. It is caused by somatic mosaicism of gain-of-function variants of PIK3CA. Here, we describe a novel case of a 5-year-old Japanese girl with CLOVES and concurrent pancreatic steatosis. She had a recurrent somatic mutation in PIK3CA (NM_006218.3: c.1357G>A, p.Glu453Lys), elevated HbA1c levels, and pancreatic steatosis. This case indicates that pancreatic screening is critical for PIK3CA-related disorders.
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CITATION STYLE
Hanafusa, H., Morisada, N., Nomura, T., Kobayashi, D., Akasaka, Y., Ye, M. J., … Nakao, H. (2019). A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis. Human Genome Variation, 6(1). https://doi.org/10.1038/s41439-019-0063-9
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