Identification of a Syndrome Comprising Microcephaly and Intellectual Disability But Not White Matter Disease Associated with a Homozygous c.676C > T p.R226W DEAF1 Mutation

Gund Christian; Powis Zoe; Alcaraz Wendy; Desai Sonal; Baranano Kristin

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Identification of a Syndrome Comprising Microcephaly and Intellectual Disability But Not White Matter Disease Associated with a Homozygous c.676C > T p.R226W DEAF1 Mutation

机译：鉴定包含微骨畸形和智力残疾的综合征，但与纯合C.676C> T p.R226W聋突突变相关的白质疾病

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We evaluated a 13-year-old East Pakistani male affected with microcephaly, apparent intellectual disability, hypotonia, and brisk reflexes without spasticity. His parents were first cousins. The patient also had a brother who was similarly affected and died at 10 years due to an accident. Previous SNP array testing showed a 1.63 Mb duplication at 16p13.11 of uncertain significance along with regions of homozygosity. Exome sequencing identified a known pathogenic homozygous alteration in DEAF1, c.676C>T (p.R226W), in this patient. The alteration had been reported in two individuals from a consanguineous Saudi Arabian family. Both individuals had microcephaly, intellectual disability, hypotonia, feeding difficulties, and poor growth. The patient reported here did not have evidence of white matter disease, as had been reported with prior patients. We conclude that this DEAF1 gene alteration caused this patient's symptoms and that white matter disease should not be considered a obligate feature of this syndrome. (C) 2016 Wiley Periodicals, Inc.

机译：我们评估了一名13岁的东巴基斯坦男性，患有微头，表观智力残疾，低血症，短暂反射，没有痉挛。他的父母是第一个表兄弟。由于事故，患者还有一个类似地受影响和死亡的兄弟。以前的SNP阵列测试显示了16P13.11的1.63 MB复制不确定的重要性以及纯合子区域。 Exome测序鉴定了聋人1，C.676C> T（P.R226W）的已知致病纯合改变，在该患者中。来自近亲沙特阿拉伯家族的两个人报告了改变。两种人都有微头，智力残疾，低呼吸道，喂养困难，增长差。正如先前患者报告的那样，这里报告的患者没有有白质疾病的证据。我们得出结论，这种聋人改变引起了这种患者的症状，并且不应被认为是这种综合征的义务特征。（c）2016 Wiley期刊，Inc。

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来源
《American journal of medical genetics, Part A》 |2016年第5期|共3页
作者
Gund Christian; Powis Zoe; Alcaraz Wendy; Desai Sonal; Baranano Kristin;
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作者单位

Ambry Genet 15 Argonaut Aliso Viejo CA 92656 USA;

Ambry Genet 15 Argonaut Aliso Viejo CA 92656 USA;

Ambry Genet 15 Argonaut Aliso Viejo CA 92656 USA;

Kennedy Krieger Inst Baltimore MD USA;

Kennedy Krieger Inst Baltimore MD USA;

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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
DEAF1 protein; human; exome; clinical diagnostic sequencing; consanguinity; microcephaly; intellectual disability;

机译：聋人蛋白质;人类;exome;临床诊断测序;血缘关系;微型透畸形;智力残疾;

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1. Identification of a Syndrome Comprising Microcephaly and Intellectual Disability But Not White Matter Disease Associated with a Homozygous c.676C > T p.R226W DEAF1 Mutation [J] . Gund Christian, Powis Zoe, Alcaraz Wendy, American journal of medical genetics, Part A . 2016,第5期

机译：鉴定包含微骨畸形和智力残疾的综合征，但与纯合C.676C> T p.R226W聋突突变相关的白质疾病
2. Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly [J] . FaqeihE.A., Al-OwainM., ColakD., American journal of medical genetics, Part A . 2014,第6期

机译：新型纯合DEAF1变异体怀疑引起白质病，智力障碍和小头畸形
3. Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly [J] . Abbasi Ansar A., Blaesius Kathrin, Hu Hao, American journal of medical genetics, Part B. Neuropsychiatric genetics: the official publication of the International Society of Psychiatric Genetics . 2017,第8期

机译：鉴定新型纯合的Trappc9基因突变，导致非综合征智力残疾，语音障碍和次生微症
4. Texture image analysis of normal appearing white matter areas in Clinically Isolated Syndrome that evolved in demyelinating lesions in subsequent MRI scans: Multiple sclerosis disease evolution [C] . 10th IEEE International Conference on Information Technology and Applications in Biomedicine . 2010

机译：在随后的MRI扫描中在脱髓鞘病变中演变的临床孤立综合征中正常出现的白质区域的纹理图像分析：多发性硬化症疾病的演变
5. A syndrome of congenital microcephaly intellectual disability and dysmorphism with a homozygous mutation in FRMD4A [O] . Dina Fine, Hagit Flusser, Barak Markus, 2015

机译：先天性小头畸形智力障碍和同形异位症的综合征FRMD4A具有纯合子突变
6. Ocular manifestations of microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) syndrome associated with mutations in KIF11 [O] . Balikova Irina, Robson Anthony A.G., Holder Graham G.E., 2016

机译：与KIF11突变相关的伴或不伴脉络膜视网膜病变，淋巴水肿或智力障碍（MCLID）综合征的小头畸形的眼部表现

Identification of a Syndrome Comprising Microcephaly and Intellectual Disability But Not White Matter Disease Associated with a Homozygous c.676C > T p.R226W DEAF1 Mutation

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