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Clinical and molecular characterization of genetically determined unclear white matter disorders

遗传决定的不明白质疾病的临床和分子特征

基本信息

批准号：
169187765
负责人：
Professorin Dr. Jutta Gärtner
金额：
--
依托单位：
Hilal pediatric Hospital Hebron
依托单位国家：
德国
项目类别：
Research Grants
财政年份：
2011
资助国家：
德国
起止时间：
2010-12-31 至 2018-12-31
项目状态：
已结题

来源：
https://gepris.dfg.de/gepris/projekt/169187765?language=en
关键词：
Clinical molecular characterization genetically determined

项目摘要

White matter disorders also known as leukoencephalopathies or leukodystrophies are a constantly growing heterogeneous group of genetic and acquired neurological disorders predominantly affecting the white matter of the central nervous system. Early diagnosis is important especially in those instances when treatment is possible. The disorders normally manifest in infancy and can be progressive or static. Examples include globoid-cell leukodystrophy (Krabbe’s disease), metachromatic leukodystrophy (MLD), X-linked adrenoleukodystrophy (X-ALD), Pelizaeus-Merzbacher disease (PMD), and Alexander’s disease. Although the diagnosis and classification of leukoencephalopathies including the identification of the causative genes have improved in the past decade, in more than half of these patients the underlying primary genetic cause remains to be elucidated. Within this trilateral project we will recruit German, Israeli and Palestinian patients with unclear leukoencephalopathies. Patients from consanguineous and unrelated families will be investigated by genome-wide homozygosity mapping as well as by next generation sequencing techniques to identify novel causative genes for these disorders. The function of new disease genes will be further characterized in cell and animal models. The project represents an integrated coordinated approach to early diagnose affected children, learn about the initial symptoms and course of leukoencephalopathies in different ethnic groups, identify new disease genes and analyze their role in human myelin formation and brain development.

白色物质障碍也称为脑白质病或脑白质营养不良，是一组不断增长的异质性遗传和获得性神经障碍，主要影响中枢神经系统的白色物质。早期诊断是重要的，特别是在那些有可能治疗的情况下。这些疾病通常在婴儿期出现，可以是进行性的或静态的。实例包括球状细胞脑白质营养不良（克拉伯病）、异染性脑白质营养不良（MLD）、X连锁肾上腺脑白质营养不良（X-ALD）、佩-梅二氏病（PMD）和亚历山大病。虽然在过去的十年中，包括致病基因的鉴定在内的白质脑病的诊断和分类已经有所改善，但在这些患者中，超过一半的潜在主要遗传原因仍有待阐明。在这个三方项目中，我们将招募德国、以色列和巴勒斯坦的不明白质脑病患者。将通过全基因组纯合性作图以及下一代测序技术对来自血缘和无关家族的患者进行研究，以确定这些疾病的新致病基因。新疾病基因的功能将在细胞和动物模型中进一步表征。该项目代表了一种综合协调的方法，以早期诊断受影响的儿童，了解不同种族群体中白质脑病的最初症状和病程，确定新的疾病基因，并分析它们在人类髓鞘形成和大脑发育中的作用。

项目成果

期刊论文数量（8）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Molecular and Biochemical Characterization of a Unique Mutation in CCS, the Human Copper Chaperone to Superoxide Dismutase

DOI：
10.1002/humu.22099
发表时间：
2012-08-01
期刊：
HUMAN MUTATION
影响因子：
3.9
作者：
Huppke, Peter;Brendel, Cornelia;Gaertner, Jutta
通讯作者：
Gaertner, Jutta

Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder.

通过全外显子组测序诊断伪装成线粒体疾病的非典型婴儿亚历山大病

DOI：
10.1016/j.ejpn.2014.03.009
发表时间：
2014
期刊：
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
影响因子：
0
作者：
Nishri D;Edvardson S;Leshinsky-Silver E;Ben-Sira L;Henneke M;Lerman-Sagie T;Blumkin L
通讯作者：
Blumkin L

Leukoencephalopathy and early death associated with an Ashkenazi-Jewish founder mutation in the Hikeshi gene