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

被引：0
作者：
Hiroaki Hanafusa
Naoya Morisada
Tadashi Nomura
Daisuke Kobayashi
Yoshinobu Akasaka
Ming Juan Ye
Kandai Nozu
Noriyuki Nishimura
Kazumoto Iijima
Hideto Nakao
机构：
[1] Hyogo Prefectural Children’s Hospital,Department of Clinical Genetics
[2] Kobe University Graduate School of Medicine,Department of Pediatrics
[3] Kobe University Graduate School of Medicine,Department of Plastic Surgery
[4] Hyogo Prefectural Children’s Hospital,Department of Orthopaedic Surgery
[5] Hyogo Prefectural Children’s Hospital,Department of Radiology
[6] Hyogo Prefectural Children’s Hospital,Department of Neonatology
来源：
Human Genome Variation | / 6卷
关键词：
D O I：
暂无
中图分类号：
学科分类号：
摘要：
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.
引用
收藏
相关论文
共 9 条
[1]  
Sapp JC(2007)Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients Am. J. Med. Genet. A 143A 2944-2958
[2]  
Kurek KC(2012)Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome Am. J. Hum. Genet. 90 1108-1115
[3]  
Coulier B(2016)Pancreatic lipomatosis: an extensive pictorial review J. Belg. Soc. Radiol. 100 39-177
[4]  
Smits MM(2011)The clinical significance of pancreatic steatosis Nat. Rev. Gastroenterol. Hepatol. 8 169-2308
[5]  
van Geenen EJ(2016)PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution JCI Insight 1 2301-295
[6]  
Mirzaa G(2018)Characterization of a severe case of PIK3CA-related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients Am. J. Med. Genet. A 176 287-546
[7]  
Piacitelli AM(2015)PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation Am. J. Med. Genet. A 167A 540-undefined
[8]  
Keppler-Noreuil KM(2018)Targeted therapy in patients with PIK3CA-related overgrowth syndrome Nature 558 undefined-undefined
[9]  
Venot Q(undefined)undefined undefined undefined undefined-undefined
1