A NovelDe Novo EFNB1Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome

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

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A NovelDe Novo EFNB1Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome

机译：墨西哥颅前鼻综合征的新型De Novo EFNB1基因突变。

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Craniofrontonasal syndrome (CNFS) is an X-linked disorder caused by mutations in theEFNB1gene 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 novelde novoc.473T>C (p.M158T) mutation in exon 3 ofEFNB1was 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.

机译：颅前鼻综合征（CNFS）是由EFNB1基因突变引起的X连锁疾病，自相矛盾的是，杂合女性比半合男性受到的影响更大。本文描述了女性患有CFNS的临床和分子研究。在该患者中证实了EFNB1外显子3中的新型Novoc.473T> C（p.M158T）突变。 Ephrin-B1蛋白的M158残基在物种之间高度保守。我们的结果扩大了CNFS暴露的突变谱。

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《Case Reports in Genetics》 |2013年第1期|共4页
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M. A.Ramirez-Garcia; O. F.Chacon-Camacho; C.Leyva-Hernandez; A.Cardenas-Conejo; J. C.Zenteno;
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中图分类临床医学;
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1. A novel de Novo mutation within EFNB1 gene in a young girl with craniofrontonasal syndrome [J] . ApostolopoulouD., StratoudakisA., HatzakiA., The Cleft palate-craniofacial journal: official publication of the American Cleft Palate-Craniofacial Association . 2012,第1期

机译：EFNB1基因内的一个新的从头突变的年轻女孩颅前鼻窦综合征
2. Four novel mutations in EFNB1 in Indian patients with craniofrontonasal syndrome [J] . Howaldt Antonia, Nampoothiri Sheela, Yesodharan Dhanya, Journal of human genetics . 2019,第9期

机译：印度患有颅型综合征的印度患者EFNB1中的四种新突变
3. Extracranial midline defects in a patient with craniofrontonasal syndrome with a novel EFNB1 mutation [J] . Acosta-Fernandez Elizabeth, Zenteno Juan C., Chacon-Camacho Oscar F., American journal of medical genetics, Part A . 2020,第5期

机译：用新型EFNB1突变患有颅孢菌综合征的患者的颅内中线缺陷
4. The Spectrum of SCN5A Gene Mutations in Singapore Brugada Syndrome Patients [C] . Rita Yu Yin Yong, BY. Tan, LSH. Gan, International Molecular Medicine Tri-Conference. . 2016

机译：新加坡巴鲁达综合征患者SCN5A基因突变的谱
5. MYCN de novo gain-of-function mutation in a patient with a novel megalencephaly syndrome [D] . Kato Kohji, 加藤耕治 2019

机译：患有新型巨脑综合征的患者的MYCN de novo功能获得性突变
6. A Novel De Novo EFNB1 Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome [O] . M. A. Ramirez-Garcia, O. F. Chacon-Camacho, C. Leyva-Hernandez, 2013

机译：墨西哥颅前鼻综合征的新型De Novo EFNB1基因突变。
7. Phenotypes of craniofrontonasal syndrome in patients with a pathogenic mutation in EFNB1. [O] . van den Elzen, ME, Twigg, SR, Goos, JA, 2014

机译：EFNB1致病性突变患者的颅额鼻综合征的表型。

A NovelDe Novo EFNB1Gene Mutation in a Mexican Patient with Craniofrontonasal Syndrome

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