A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis

A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis

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 conc...

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Veröffentlicht in:Human genome variation 2019-06, Vol.6 (1), p.31-31, Article 31
Hauptverfasser: Hanafusa, Hiroaki, Morisada, Naoya, Nomura, Tadashi, Kobayashi, Daisuke, Akasaka, Yoshinobu, Ye, Ming Juan, Nozu, Kandai, Nishimura, Noriyuki, Iijima, Kazumoto, Nakao, Hideto
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Sprache:eng
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631/208/2489/144
692/699/2743/2815
Biomedical and Life Sciences
Biomedicine
Cell growth
Congenital diseases
Data Report
Deoxyribonucleic acid
DNA
Gene Expression
Gene Function
Gene Therapy
Genetic testing
Genetics
Genomes
Human Genetics
Kinases
Medicine
Molecular Medicine
Mutation
Pancreatic cancer
Patients
Pediatrics
Polymerase chain reaction
Scoliosis
Ultrasonic imaging
University graduates
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Zusammenfassung: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.
ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-019-0063-9