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

被引：5
|
作者：
Hanafusa, Hiroaki [1 ]
Morisada, Naoya [1 ,2 ]
Nomura, Tadashi [3 ]
Kobayashi, Daisuke [4 ]
Akasaka, Yoshinobu [5 ]
Ye, Ming Juan [2 ]
Nozu, Kandai [2 ]
Nishimura, Noriyuki [2 ]
Iijima, Kazumoto [2 ]
Nakao, Hideto [6 ]
机构：
[1] Hyogo Prefectural Childrens Hosp, Dept Clin Genet, Kobe, Hyogo, Japan
[2] Kobe Univ, Grad Sch Med, Dept Pediat, Kobe, Hyogo, Japan
[3] Kobe Univ, Grad Sch Med, Dept Plast Surg, Kobe, Hyogo, Japan
[4] Hyogo Prefectural Childrens Hosp, Dept Orthopaed Surg, Kobe, Hyogo, Japan
[5] Hyogo Prefectural Childrens Hosp, Dept Radiol, Kobe, Hyogo, Japan
[6] Hyogo Prefectural Childrens Hosp, Dept Neonatol, Kobe, Hyogo, Japan
来源：
HUMAN GENOME VARIATION | 2019年 / 6卷 / 1期
关键词：
OVERGROWTH;
D O I：
10.1038/s41439-019-0063-9
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
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.
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页数：3
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