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.

引用

页数：3

共 32 条

[31] Utility of clinical high-depth next generation sequencing for somatic variant detection in the PIK3CA-related overgrowth spectrum
Hucthagowder, V.
Shenoy, A.
Corliss, M.
Vigh-Conrad, K. A.
Storer, C.
Grange, D. K.
Cottrell, C. E.
CLINICAL GENETICS, 2017, 91 (01) : 79 - 85
[32] The utility of cerebrospinal fluid-derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report
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