The unclassified variant: C.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype

Al-QattanM.M.; AlBalwiM.A.

首页> 外文期刊>Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function >The unclassified variant: C.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype

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The unclassified variant: C.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype

机译：未分类的变体：患有II型口面部数字综合征（Mohr综合征）表型的患者中GLI3基因第12外显子的C.2044AD> G，p.T682A（上）

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The gene mutation for oral-facial digital syndrome type II (Mohr syndrome) is unknown. We describe a Saudi female infant with Mohr syndrome. An unclassified variant: c.2044 A>G, p.T682A in exon 12 of the GLI3 gene in a heterozygous state was identified in the infant. Mutation Taster (http://www.mutationtaster.org) considers this variant as "disease causing". However, when the unaffected parents were tested, the father was found to have the same variant, also in a heterozygous state. Hence, the pathogenic role of this variant seems unlikely; although apparent non-penetrance remains a possibility.

机译：II型口腔数字综合征（Mohr综合征）的基因突变尚不清楚。我们描述了一个沙特女婴，患有摩尔综合征。在婴儿中发现了杂合状态的GLI3基因第12外显子中未分类的变体：c.2044 A> G，p.T682A。 Mutation Taster（http://www.mutationtaster.org）将此变体视为“引起疾病”。但是，当对未受影响的父母进行测试时，发现其父亲具有相同的变异，也处于杂合状态。因此，这种变体的致病作用似乎不太可能。尽管明显的不渗透仍然是可能的。

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来源
《Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function》 |2013年第2期|共3页
作者
Al-QattanM.M.; AlBalwiM.A.;
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正文语种 eng
中图分类医学遗传学;
关键词
GLI3; Mohr syndrome; Oral-facial-digital syndrome;

机译：GLI3;Mohr综合征;口腔面部数字综合征;

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1. The unclassified variant: C.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype [J] . Al-QattanM.M., AlBalwiM.A. Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function . 2013,第2期

机译：未分类的变体：患有II型口面部数字综合征（Mohr综合征）表型的患者中GLI3基因第12外显子的C.2044AD> G，p.T682A（上）
2. The unclassified variant: C.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype [J] . Al-QattanM.M., AlBalwiM.A. Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function . 2013,第2期

机译：未分类的变体：患有II型口面部数字综合征（Mohr综合征）表型的患者中GLI3基因第12外显子的C.2044AD> G，p.T682A（上）
3. The unclassified variant: C.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype [J] . Al-QattanM.M., AlBalwiM.A. Gene: An International Journal Focusing on Gene Cloning and Gene Structure and Function . 2013,第2期

机译：未分类的变体：C.2044AD> G，P.T682A（HET。）在具有口服 - 数字综合征II型（MoHR综合征）表型的患者中GLI3基因的外显子12中的外显子12
4. ALLELIC VARIANTS IN CARDIAC ION CHANNEL GENES IN PATIENTS WITH DRUG-INDUCED LONG QT SYNDROME [C] . HIDEAKIKANK International Congress on Electrocardiology . 2005

机译：药物诱导型QT综合征患者心脏离子通道基因的等位基因变体
5. Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome) [O] . Glen R Monroe, Isabelle FPM Kappen, Marijn F Stokman, 2016

机译：II型口面部数字综合征（Mohr综合征）的两个兄弟姐妹中的复合杂合NEK1变体
6. Compound heterozygous NEK1 variants in two siblings with oral-facial-digital syndrome type II (Mohr syndrome) [O] . Glen R Monroe, Isabelle FPM Kappen, Marijn F Stokman, 2016

机译：两种兄弟姐妹中的复方杂合子NEK1变体，具有口腔 - 面部数字综合征II型（MOHR综合征）

The unclassified variant: C.2044AD>G, p.T682A (het.) in exon 12 of the GLI3 gene in a patient with oral-facial-digital syndrome type II (Mohr syndrome) phenotype

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