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一名患有颅额鼻综合征的墨西哥患者中发现的一种新型从头发生的EFNB1基因突变。

A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome.

作者信息

Ramirez-Garcia M A, Chacon-Camacho O F, Leyva-Hernandez C, Cardenas-Conejo A, Zenteno J C

机构信息

Genetics Department, UMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Cuauhtémoc 330, Colonia Doctores, 06720 México, DF, Mexico.

出版信息

Case Rep Genet. 2013;2013:349725. doi: 10.1155/2013/349725. Epub 2013 Feb 21.

DOI:10.1155/2013/349725
PMID:23509643
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3594931/
Abstract

Craniofrontonasal syndrome (CNFS) is an X-linked disorder caused by mutations in the EFNB1 gene in which, paradoxically, heterozygous females are more severely affected than hemizygous males. In this paper, the clinical and molecular studies of a female subject with CFNS are described. A novel de novo c.473T>C (p.M158T) mutation in exon 3 of EFNB1 was demonstrated in this patient. The M158 residue of the Ephrin-B1 protein is highly conserved between species. Our results expand the mutational spectrum exposed by CNFS.

摘要

颅额鼻综合征（CNFS）是一种由EFNB1基因突变引起的X连锁疾病，矛盾的是，杂合子女性比半合子男性受影响更严重。本文描述了一名患有CFNS的女性受试者的临床和分子研究。在该患者中发现了EFNB1基因外显子3中一个新的从头发生的c.473T>C（p.M158T）突变。Ephrin-B1蛋白的M158残基在物种间高度保守。我们的结果扩展了CNFS所揭示的突变谱。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bd2/3594931/5e9ea0694fad/CRIM.GENETICS2013-349725.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bd2/3594931/36ea3c015010/CRIM.GENETICS2013-349725.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bd2/3594931/3a6ba06e433d/CRIM.GENETICS2013-349725.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bd2/3594931/5e9ea0694fad/CRIM.GENETICS2013-349725.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bd2/3594931/36ea3c015010/CRIM.GENETICS2013-349725.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bd2/3594931/3a6ba06e433d/CRIM.GENETICS2013-349725.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4bd2/3594931/5e9ea0694fad/CRIM.GENETICS2013-349725.003.jpg

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本文引用的文献

1
Diverse clinical and genetic aspects of craniofrontonasal syndrome.颅面-鼻-眶发育不良综合征的多种临床和遗传方面。
Pediatr Neurol. 2011 Feb;44(2):83-7. doi: 10.1016/j.pediatrneurol.2010.10.012.
2
The impact of CFNS-causing EFNB1 mutations on ephrin-B1 function.CFNS 致病 EFNB1 突变对 Ephrin-B1 功能的影响。
BMC Med Genet. 2010 Jun 17;11:98. doi: 10.1186/1471-2350-11-98.
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Additional EFNB1 mutations in craniofrontonasal syndrome.颅额鼻综合征中的额外EFNB1突变。
Am J Med Genet A. 2008 Aug 1;146A(15):2008-12. doi: 10.1002/ajmg.a.32388.
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Dissecting the molecular mechanisms in craniofrontonasal syndrome: differential mRNA expression of mutant EFNB1 and the cellular mosaic.剖析颅额鼻综合征的分子机制：突变型EFNB1的差异mRNA表达与细胞镶嵌现象
Eur J Hum Genet. 2008 Feb;16(2):184-91. doi: 10.1038/sj.ejhg.5201968. Epub 2007 Nov 28.
5
The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males.颅额鼻综合征中EFNB1突变的起源：频繁的体细胞镶嵌现象及男性携带者稀少的原因
Am J Hum Genet. 2006 Jun;78(6):999-1010. doi: 10.1086/504440. Epub 2006 Apr 28.
6
Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox.颅额鼻综合征的临床与遗传学方面：致力于解决一个遗传学悖论
Mol Genet Metab. 2005 Sep-Oct;86(1-2):110-6. doi: 10.1016/j.ymgme.2005.07.017.
7
Twenty-six novel EFNB1 mutations in familial and sporadic craniofrontonasal syndrome (CFNS).家族性和散发性颅额鼻综合征（CFNS）中的26种新型EFNB1突变。
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8
Eph/ephrin signaling in morphogenesis, neural development and plasticity.Eph/ephrin信号通路在形态发生、神经发育及可塑性中的作用
Curr Opin Cell Biol. 2004 Oct;16(5):580-9. doi: 10.1016/j.ceb.2004.07.002.
9
Mutations of ephrin-B1 (EFNB1), a marker of tissue boundary formation, cause craniofrontonasal syndrome.组织边界形成的标志物 Ephrin-B1（EFNB1）的突变会导致颅额鼻综合征。
Proc Natl Acad Sci U S A. 2004 Jun 8;101(23):8652-7. doi: 10.1073/pnas.0402819101. Epub 2004 May 27.
10
Mutations of the ephrin-B1 gene cause craniofrontonasal syndrome.埃菲林-B1基因的突变会导致颅额鼻综合征。
Am J Hum Genet. 2004 Jun;74(6):1209-15. doi: 10.1086/421532. Epub 2004 Apr 29.