A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.

Yis U; Uyanik G; Kurul S; Dirik E; Ozer E; Gross C; Hehr U

首页> 外文期刊>European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society >A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.

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A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.

机译：纯合的POMT1突变引起的Walker-Warburg综合征。

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Walker--Warburg syndrome (WWS), the most severe alpha-dystroglycanopathy, is characterized by brain and eye anomalies, and congenital muscular dystrophy (CMD). So far at least four genes (POMT1, POMT2, Fukutin, and FKRP gene) have been implicated in WWS, accounting for about 30% of all cases. We report a male patient with WWS resulting from a homozygous nonsense mutation (R514X) in the POMT1 gene. The patient had congenital hydrocephalus which was detected at 29 weeks of gestation. A brain MRI obtained after birth revealed type II lissencephaly, hydrocephalus, and pontocerebellar hypoplasia. The case also exhibited severe ocular malformations and muscular hypotonia due to CMD.

机译：Walker-Warburg综合征（WWS）是最严重的α-营养不良症，其特征是大脑和眼睛异常以及先天性肌营养不良（CMD）。迄今为止，至少有四个基因（POMT1，POMT2，Fukutin和FKRP基因）与WWS有关，约占所有病例的30％。我们报告了男性患者的WWS是由POMT1基因中的纯合性无意义突变（R514X）引起的。该患者患有先天性脑积水，在妊娠29周时被发现。出生后获得的大脑MRI显示II型小脑，脑积水和小脑桥发育不全。该病例还表现出由于CMD引起的严重眼部畸形和肌张力低下。

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《European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society》 |2007年第1期|共4页
作者
Yis U; Uyanik G; Kurul S; Dirik E; Ozer E; Gross C; Hehr U;
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正文语种 eng
中图分类儿科学;
关键词
Warburg syndrome; Mutation; Patients; Hydrocephalus; Genes; 突变; 病人; 脑积水; 基因;

机译：Warburg syndrome;Mutation;Patients;Hydrocephalus;Genes;突变;病人;脑积水;基因;

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1. A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation. [J] . Yis U, Uyanik G, Kurul S, European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society . 2007,第1期

机译：纯合的POMT1突变引起的Walker-Warburg综合征。
2. Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation. [J] . Sabatelli P, Columbaro M, Mura I, Biochimica et biophysica acta: international journal of biochemistry and biophysics . 2003,第1期

机译：由POMT1突变引起的Walker-Warburg综合征患者的骨骼肌细胞外基质和核异常。
3. A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish Gypsy families. [J] . Cotarelo RP, Fano O, Raducu M Clinical Genetics: An International Journal of Genetics in Medicine . 2009,第1期

机译：涉及外显子跳跃的POMT1基因的双重纯合突变在两个西班牙吉普赛家族中引起了Walker-Warburg综合征。
4. Analysis of SARS-CoV-2 sequences reveals transmission path and emergence of SD 614G mutation. [C] . Mingjia Li, Nishita Prasad, Dwight Hall, IEEE International Conference on Bioinformatics and Biomedicine . 2020

机译：SARS-COV-2序列的分析显示了SD 614G突变的传输路径和出现。
5. Characterization of the Myelodysplastic Syndromes-Related SRSF2 P95 Mutation. [D] . Skrdlant, Lindsey. 2016

机译：骨髓增生异常综合征相关的SRSF2 P95突变的表征。
6. Expression of the Murine Pomt1 Gene in Both the Developing Brain and Adult Muscle Tissues and Its Relationship with Clinical Aspects of Walker-Warburg Syndrome [O] . Belén Prados, Almudena Peña, Rocío P. Cotarelo, 2007

机译：小鼠Pomt1基因在发育中的脑组织和成年肌肉组织中的表达及其与Walker-Warburg综合征临床表现的关系
7. A double homozygous mutation in the POMT1 gene involving exon skipping gives rise to Walker-Warburg syndrome in two Spanish gypsy families [O] . Cotarelo, R. P., Fano, O., Raducu, Madalina, 2013

机译：涉及外显子跳跃的POMT1基因的双重纯合突变在两个西班牙吉普赛家庭中引起了Walker-Warburg综合征

A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation.

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