Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

被引：9

作者：

Koutlas, Ioannis G. ^{[1
]}

Anbinder, Ana-Lia ^{[2
]}

Alshagroud, Rana ^{[3
]}

Cavalcante, Ana Sueli Rodrigues ^{[2
]}

Al Kindi, Mohammed ^{[3
]}

Crenshaw, Molly M. ^{[4
]}

Sapp, Julie C. ^{[4
]}

Kondolf, Hannah ^{[4
]}

Lindhurst, Marjorie J. ^{[4
]}

Dudley, Jeffrey N. ^{[4
]}

Johnston, Jennifer J. ^{[4
]}

Ryan, Elyse ^{[5
]}

Rafferty, Keith ^{[5
]}

Ganguly, Arupa ^{[5
]}

Biesecker, Leslie G. ^{[4
]}

机构：

[1] Univ Minnesota, Div Oral & Maxillofacial Pathol, Minneapolis, MN 55455 USA

[2] Sao Paulo State Univ Unesp, Inst Sci & Technol, Sao Jose Dos Campos, SP, Brazil

[3] King Saud Univ, Riyadh, Saudi Arabia

[4] NHGRI, Med Genom & Metab Genet Branch, Bethesda, MD USA

[5] Univ Penn, Genet Diagnost Lab, Perelman Sch Med, Philadelphia, PA USA

来源：

HUMAN GENETICS AND GENOMICS ADVANCES | 2020年 / 1卷 / 01期

关键词：

INTRANEURAL PROLIFERATIONS; PIK3CA MUTATION; HYPERPLASIA; EXPRESSION; MOSAICISM; CHILD; 2B;

D O I：

10.1016/j.xhgg.2020.100009

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Individuals with orofacial asymmetry due to mucosal overgrowths, ipsilateral bone and dental aberrations with perineurial hyperplasia and/or perineuriomatous pseudo-onion bulb proliferations, comprise a recognizable clinical entity. In this article, we describe three individuals with this clinical entity and mosaic PIK3CA variants c.3140A>G (p. His1047Arg), c.328_330delGAA (p. Glu110del), and c.1353_1364del (p.Glu453_Leu456del). We conclude that the identification of these mosaic variants in individuals with orofacial asymmetry presenting histopathologically perineurial hyperplasia and/or intraneural pseudo-onion bulb perineurial cell proliferations supports the inclusion of this clinical entity in the PIK3CA-related overgrowth spectrum.

引用

页数：6

共 9 条

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