扩展AKT1镶嵌现象的范围：不仅仅是变形综合征。 - Suppr

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Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome.

作者信息

Polubothu S, Al-Olabi L, Wilson L, Chong W K, Kinsler V A

机构信息

Guy's and St Thomas' NHS Foundation Trust, London, U.K.

Genetics and Genomic Medicine, UCL Institute of Child Health, London, U.K.

出版信息

Br J Dermatol. 2016 Sep;175(3):612-4. doi: 10.1111/bjd.14478. Epub 2016 Jun 23.

DOI:10.1111/bjd.14478

PMID:26872686

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5244677/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d338/5244677/8eda97d03d07/BJD-175-612-g001.jpg

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Am J Med Genet A. 2015 Feb;167A(2):287-95. doi: 10.1002/ajmg.a.36836. Epub 2014 Dec 31.

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JAMA Dermatol. 2014 Sep;150(9):990-3. doi: 10.1001/jamadermatol.2013.10368.

Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.

J Invest Dermatol. 2013 Sep;133(9):2229-36. doi: 10.1038/jid.2013.70. Epub 2013 Feb 7.

Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell.

J Invest Dermatol. 2013 Aug;133(8):1998-2003. doi: 10.1038/jid.2013.24. Epub 2013 Jan 21.

Keratinocytic epidermal nevi are associated with mosaic RAS mutations.

J Med Genet. 2012 Apr;49(4):249-53. doi: 10.1136/jmedgenet-2011-100637.

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N Engl J Med. 2011 Aug 18;365(7):611-9. doi: 10.1056/NEJMoa1104017. Epub 2011 Jul 27.

A mild form of Proteus syndrome.

Pediatr Dermatol. 2007 Nov-Dec;24(6):660-2. doi: 10.1111/j.1525-1470.2007.00562.x.

Mild and delayed-onset Proteus syndrome.

Eur J Dermatol. 2007 Mar-Apr;17(2):172-3. doi: 10.1684/ejd.2007.0141. Epub 2007 Mar 2.

A minimal form of Proteus syndrome presenting with macrodactyly and hand hyperplasia.

Eur J Dermatol. 2003 Mar-Apr;13(2):196-8.

Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

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相似文献

Extending the spectrum of AKT1 mosaicism: not just the Proteus syndrome.

Br J Dermatol. 2016 Sep;175(3):612-4. doi: 10.1111/bjd.14478. Epub 2016 Jun 23.

High-level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non-invasive molecular diagnosis in patients with Proteus syndrome.

Am J Med Genet A. 2013 Apr;161A(4):889-91. doi: 10.1002/ajmg.a.35764. Epub 2013 Feb 22.

Mutant AKT1 in Proteus syndrome.

N Engl J Med. 2011 Dec 1;365(22):2141-2; author reply 2142. doi: 10.1056/NEJMc1111367.

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J Dermatol. 2014 Feb;41(2):188-9. doi: 10.1111/1346-8138.12358. Epub 2014 Jan 3.

Severe gynaecological involvement in Proteus Syndrome.

Eur J Med Genet. 2019 Apr;62(4):270-272. doi: 10.1016/j.ejmg.2018.08.003. Epub 2018 Aug 10.

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

N Engl J Med. 2011 Aug 18;365(7):611-9. doi: 10.1056/NEJMoa1104017. Epub 2011 Jul 27.

Proteus syndrome review: molecular, clinical, and pathologic features.

Clin Genet. 2014 Feb;85(2):111-9. doi: 10.1111/cge.12266. Epub 2013 Oct 23.

Proteus syndrome: Report of a case with AKT1 mutation in a dental cyst.

Eur J Med Genet. 2015 May;58(5):300-4. doi: 10.1016/j.ejmg.2015.02.008. Epub 2015 Mar 14.

AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome.

J Invest Dermatol. 2014 Feb;134(2):543-546. doi: 10.1038/jid.2013.312. Epub 2013 Jul 24.

A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation.

JAMA Dermatol. 2014 Sep;150(9):990-3. doi: 10.1001/jamadermatol.2013.10368.

引用本文的文献

Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome.

Doc Ophthalmol. 2021 Feb;142(1):119-126. doi: 10.1007/s10633-020-09778-9. Epub 2020 Jul 2.

本文引用的文献

Am J Med Genet A. 2015 Feb;167A(2):287-95. doi: 10.1002/ajmg.a.36836. Epub 2014 Dec 31.

A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation.

JAMA Dermatol. 2014 Sep;150(9):990-3. doi: 10.1001/jamadermatol.2013.10368.

Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.

J Invest Dermatol. 2013 Sep;133(9):2229-36. doi: 10.1038/jid.2013.70. Epub 2013 Feb 7.

Phacomatosis pigmentokeratotica is caused by a postzygotic HRAS mutation in a multipotent progenitor cell.

J Invest Dermatol. 2013 Aug;133(8):1998-2003. doi: 10.1038/jid.2013.24. Epub 2013 Jan 21.

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J Med Genet. 2012 Apr;49(4):249-53. doi: 10.1136/jmedgenet-2011-100637.

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N Engl J Med. 2011 Aug 18;365(7):611-9. doi: 10.1056/NEJMoa1104017. Epub 2011 Jul 27.

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Pediatr Dermatol. 2007 Nov-Dec;24(6):660-2. doi: 10.1111/j.1525-1470.2007.00562.x.

Mild and delayed-onset Proteus syndrome.

Eur J Dermatol. 2007 Mar-Apr;17(2):172-3. doi: 10.1684/ejd.2007.0141. Epub 2007 Mar 2.

A minimal form of Proteus syndrome presenting with macrodactyly and hand hyperplasia.

Eur J Dermatol. 2003 Mar-Apr;13(2):196-8.

Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation.

Am J Med Genet. 1999 Jun 11;84(5):389-95. doi: 10.1002/(sici)1096-8628(19990611)84:5<389::aid-ajmg1>3.0.co;2-o.