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Genetic Testing for Joubert Syndrome in the Jewish Population

详细技术说明: The "ciliopathies" are a newly emerging group of diseases due to defects in the function or structure of cellular primary cilia, which are small cellular appendages previously of unknown function. UC San Diego researchers and colleagues have identified five genes for Joubert Syndrome (JS), which is a ciliopathy that is characterized by cerebellar ataxia, blindness, renal failure, and mental retardation. Most of these mutations occur randomly throughout the gene, which makes genetic diagnosis very laborious. Researchers found that all Jewish patients with JS share a common mutation in a newly identified gene. Of the Jewish families tested thus far, 100 percent of the patients were homozygous for the point mutation. It is anticipated that this discovery will make it possible to perform genetic testing in this population easily.

*Principal Investigation: Name: Francesco Brancati
Department:

Name: Bruno Dallapiccola
Department:

Name: Joseph Gleeson
Department:

Name: Jennifer Silhavy
Department:

Name: Enza Maria Valente
Department:

附加资料: Patent Number: US8614094B2
Application Number: US13098345A
Inventor: Gleeson, Joseph G. | Silhavy, Jennifer | Valente, Enza Maria | Brancati, Francesco
Priority Date: 29 Apr 2011
Priority Number: US8614094B2
Application Date: 29 Apr 2011
Publication Date: 24 Dec 2013
IPC Current: A01K006700 | C12Q000168 | C40B003000 | G01N003353
US Class: 435455 | 4240091 | 43500611 | 43500612 | 435325 | 435366 | 436015 | 436089 | 506007 | 530350 | 5360231 | 5360235
Assignee Applicant: The Regents of the University of California
Title: Compositions and methods for determining genetic polymorphisms in the TMEM216 gene
Usefulness: Compositions and methods for determining genetic polymorphisms in the TMEM216 gene
Summary: The method is useful for determining or predicting predisposition to, or presence of, ciliopathy, where the ciliopathy is Joubert syndrome related disorder amino acid variation, Joubert syndrome or meckel syndrome (all claimed).
Novelty: Determining or predicting predisposition to or presence of ciliopathy, comprises e.g. determining presence or absence of transmembrane protein 216 genetic variant

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