Exome Sequencing Identifies a De Novo Frameshift Mutation in the Imprinted Gene ZDBF2 in a Sporadic Patient with Nasopalpebral Lipoma-Coloboma Syndrome

Chacon-Camacho Oscar F.; Sobreira Nara; You Jing; Pina-Aguilar Raul E.; Villegas-Ruiz Vanessa; Zenteno Juan C.

首页> 外文期刊>American journal of medical genetics, Part A >Exome Sequencing Identifies a De Novo Frameshift Mutation in the Imprinted Gene ZDBF2 in a Sporadic Patient with Nasopalpebral Lipoma-Coloboma Syndrome

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Exome Sequencing Identifies a De Novo Frameshift Mutation in the Imprinted Gene ZDBF2 in a Sporadic Patient with Nasopalpebral Lipoma-Coloboma Syndrome

机译：Exome测序识别鼻耳脂肪瘤 - 组落综合征的散发性患者中印迹基因ZDBF2中的De Novo帧突变突变

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Nasopalpebral lipoma-coloboma syndrome (NPLCS, OMIM% 167730) is an uncommon malformation entity with autosomal dominant inheritance characterized by the combination of nasopalpebral lipoma, colobomas in upper and lower eyelids, telecanthus, and maxillary hypoplasia. To date, no genetic defects have been associated with familial or sporadic NPLCS cases and the etiology of the disease remains unknown. In this work, the results of whole exome sequencing in a sporadic NPLCS patient are presented. Exome sequencing identified a de novo heterozygous frameshift dinucleotide insertion c.6245_6246 insTT (p.His2082fs*67) in ZDBF2 (zinc finger, DBF-type containing 2), a gene located at 2q33.3. This variant was absent in parental DNA, in a set of 300 ethnically matched controls, and in public exome variant databases. This is the first genetic variant identified in a NPLCS patient and evidence supporting the pathogenicity of the identified mutation is discussed. (C) 2016 Wiley Periodicals, Inc.

机译：鼻咽癌脂质血肿综合征（NPLC，OMIM％167730）是一种罕见的畸形实体，具有血吸虫脂肪瘤，上下眼睑，杂散和上颌发育性的鼻咽癌，Colobomas的组合特征的常见畸形。迄今为止，没有遗传缺陷与家族或散发性NPLCS病例有关，并且疾病的病因仍然未知。在这项工作中，提出了散发性NPLC患者的全外膜测序的结果。 exome测序鉴定了ZdBF 2（锌指，DBF型）中的DE Novo杂合子架子二核苷酸插入C.6245_6246 Instt（p.His2082FS * 67），位于位于2q333的基因。这种变体在父母DNA中不存在，在一组300种环境匹配的控制中，以及公共Exome变体数据库。这是在NPLC患者中鉴定的第一遗传变体，并且讨论了支持所识别的突变的致病性的证据。（c）2016 Wiley期刊，Inc。

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来源
《American journal of medical genetics, Part A》 |2016年第7期|共4页
作者
Chacon-Camacho Oscar F.; Sobreira Nara; You Jing; Pina-Aguilar Raul E.; Villegas-Ruiz Vanessa; Zenteno Juan C.;
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作者单位

Inst Ophthalmol Conde de Valenciana Dept Genet Res Unit Mexico City DF Mexico;

Johns Hopkins Univ Sch Med Inst Med Genet Baltimore MD USA;

Johns Hopkins Univ Sch Med Inst Med Genet Baltimore MD USA;

ISSSTE Natl Med Ctr Noviembre 20 Div Genom Med Mexico City DF Mexico;

Inst Ophthalmol Conde de Valenciana Dept Genet Res Unit Mexico City DF Mexico;

Inst Ophthalmol Conde de Valenciana Dept Genet Res Unit Mexico City DF Mexico;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
nasopalpebral lipoma; coloboma; exome sequencing; ZDBF2;

机译：鼻咽癌;Coloboma;exome测序;ZDBF2;

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1. Exome Sequencing Identifies a De Novo Frameshift Mutation in the Imprinted Gene ZDBF2 in a Sporadic Patient with Nasopalpebral Lipoma-Coloboma Syndrome [J] . Chacon-Camacho Oscar F., Sobreira Nara, You Jing, American journal of medical genetics, Part A . 2016,第7期

机译：Exome测序识别鼻耳脂肪瘤 - 组落综合征的散发性患者中印迹基因ZDBF2中的De Novo帧突变突变
2. Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa [J] . Liu Sanmei, Xie Lan, Yue Jun, International journal of molecular medicine . 2016,第6期

机译：全末端测序鉴定了PROM1基因中的新型纯合的杂交突变，作为两种孢子性视网膜炎患者的致病性突变
3. Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome [J] . Das Bhowmik Aneek, Dalal Ashwin Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function . 2015,第2期

机译：整个外显子组测序确定了过度生长综合征患者GPC3基因的新移码突变
4. Whole Exome Sequencing Approach to Identify Genetic Variants Causing Sudden Unexplained Death Syndrome [C] . Seok-Hwee Koo, Paul Chui, Chee Seng Ku, Molecular Medicine TRI-CON. . 2014

机译：识别遗传变异突然未解释的死亡综合征的整体exome测序方法
5. Analysis of somatic mutations identified by whole-exome sequencing in colorectal cancer metastasis [D] . Zhao, Bixiao 2016

机译：通过全外显子测序鉴定的大肠癌转移中的体细胞突变分析
6. Exome Sequencing Identifies a De Novo Frameshift Mutation in the Imprinted Gene ZDBF2 in a Sporadic Patient with Nasopalpebral Lipoma-Coloboma Syndrome [O] . Oscar F. Chacón-Camacho, Nara Sobreira, Jing You, -1

机译：外显子组测序确定了一个散发的鼻睑脂瘤-结肠癌综合征患者的印迹基因ZDBF2中的从头突变。
7. Whole-exome sequencing identifies a novel homozygous frameshift mutation in the PROM1 gene as a causative mutation in two patients with sporadic retinitis pigmentosa [O] . SANMEI LIU, LAN XIE, JUN YUE, 2016

机译：全面测序识别PROM1基因中的新型纯合的框架突变，是两名孢子性视网膜炎患者的致病性突变

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Exome Sequencing Identifies a De Novo Frameshift Mutation in the Imprinted Gene ZDBF2 in a Sporadic Patient with Nasopalpebral Lipoma-Coloboma Syndrome

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