A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family

Cortini Francesca; Marinelli Barbara; Romi Silvia; Seresini Agostino; Pesatori Angela Cecilia; Seia Manuela; Montano Nicola; Bassotti Alessandra

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A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family

机译：ehlers-danlos综合征血管型具有不同表型的新的COL3A1突变在同一家庭中

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Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain (COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c. 3140 G> A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance.

机译：血管Ehlers-Danlos综合征（VEDS）是胶原III型αI链（COL3A1）基因突变引起的罕见和严重的结缔组织障碍。我们描述了一种致病杂合子COL3A1突变C. 3140 g> a，p。 Gly1047ASP，使用下一代测序确定，在一个40岁的意大利女性中。在她的亲属上进行的遗传测试，其具有不同的临床表型，证实它们在杂合状态下携带相同的突变。这一发现证实，导致VED的突变具有不完全的渗透率。

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来源
《Vascular and endovascular surgery》 |2017年第3期|共5页
作者
Cortini Francesca; Marinelli Barbara; Romi Silvia; Seresini Agostino; Pesatori Angela Cecilia; Seia Manuela; Montano Nicola; Bassotti Alessandra;
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作者单位

Univ Milan IRCCS Ca Granda Fdn Dept Clin Sci &

Community Hlth Milan Italy;

Univ Milan IRCCS Ca Granda Fdn Dept Clin Sci &

Community Hlth Milan Italy;

Univ Milan IRCCS Ca Granda Fdn Dept Clin Sci &

Community Hlth Milan Italy;

IRCCS Ca Granda Fdn Genet Lab Milan Italy;

Univ Milan IRCCS Ca Granda Fdn Dept Clin Sci &

Community Hlth Milan Italy;

IRCCS Ca Granda Fdn Genet Lab Milan Italy;

Univ Milan Osped Maggiore Fdn IRCCS Ca Granda Dept Internal Med I-20122 Milan Italy;

IRCCS Ca Granda Fdn Reg Ctr Ehlers Danlos Syndrome Milan Italy;

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原文格式 PDF
正文语种 eng
中图分类心脏血管和淋巴系外科学;
关键词
Ehlers-Danlos syndrome vascular type; COL3A1 gene; next-generation sequencing; Haloplex target enrichment; penetrance; bioinformatics analysis;

机译：ehlers-danlos综合征血管型;col3a1基因;下一代测序;卤素目标富集;渗透;生物信息学分析;

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专利

1. A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family [J] . Cortini Francesca, Marinelli Barbara, Romi Silvia, Vascular and endovascular surgery . 2017,第3期

机译：ehlers-danlos综合征血管型具有不同表型的新的COL3A1突变在同一家庭中
2. Ehlers-Danlos Syndrome Type IV, Vascular Type, Which Demonstrated a Novel Point Mutation in the COL3A1 Gene [J] . Rinako Sadakata, Atsushi Hatamochi, Keiji Kodama, Internal medicine. . 2010,第16期

机译：Ehlers-Danlos综合征类型IV，血管类型，在COL3A1基因中表现出新的点突变
3. Novel missense mutation in the COL3A1 gene caused vascular Ehlers-Danlos syndrome in a Chinese family [J] . He Fang, Wang Xianwei, Cai Xinzhang, The Journal of dermatology . 2015,第1期

机译：COL3A1基因的新型错义突变导致中国家庭的血管Ehlers-Danlos综合征
4. Insight in vascular fragility induced by collagen structural change using ultrafast ultrasound imaging in a mouse model of vascular Ehlers-Danlos syndrome [C] . Guillaume Goudot, Tristan Mirault, Véronique Baudrie, IEEE International Ultrasonics Symposium . 2017

机译：使用超快速超声成像在血管性Ehlers-Danlos综合征小鼠模型中了解胶原蛋白结构变化引起的血管脆性
5. A mutation in cytochrome c oxidase subunit VIa causes defective L-type calcium currents and Leigh syndrome-like phenotypes in Drosophila. [D] . Liu, Wensheng. 2004

机译：细胞色素c氧化酶亚基VIa的突变会导致果蝇的L型钙电流缺陷和Leigh综合征样表型。
6. Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome Ehlers-Danlos Syndrome Type IV [O] . Ulrike Schwarze, Wouter I. Schievink, Elizabeth Petty, 2001

机译：III型胶原蛋白的一个COL3A1等位基因的单倍剂量不足导致其表型类似于Ehlers-Danlos综合征Ehlers-Danlos综合征IV型的血管形式。
7. Haploinsufficiency for One COL3A1 Allele of Type III Procollagen Results in a Phenotype Similar to the Vascular Form of Ehlers-Danlos Syndrome, Ehlers-Danlos Syndrome Type IV [O] . Schwarze, Ulrike, Schievink, Wouter I., Petty, Elizabeth, 2001

机译：III型胶原蛋白的一个COL3A1等位基因的单倍剂量不足导致其表型类似于Ehlers-Danlos综合征，Ehlers-Danlos综合征IV型的血管形式。

A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family

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