TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita.

TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita. Abstract Text:

Sharon A Savage,Neelam Giri,Gabriela M Baerlocher,Nick Orr,Peter M Lansdorp,Blanche P Alter,Sharon A Savage,Neelam Giri,Gabriela M Baerlocher,Nick Orr,Peter M Lansdorp,Blanche P Alter,

Patients with dyskeratosis congenita (DC), a heterogeneous inherited bone marrow failure syndrome, have abnormalities in telomere biology, including very short telomeres and germline mutations in DKC1, TERC, TERT, or NOP10, but approximately 60% of DC patients lack an identifiable mutation. With the very short telomere phenotype and a highly penetrant, rare disease model, a linkage scan was performed on a family with autosomal-dominant DC and no mutations in DKCI, TERC, or TERT. Evidence favoring linkage was found at 2p24 and 14q11.2, and this led to the identification of TINF2 (14q11.2) mutations, K280E, in the proband and her five affected relatives and TINF2 R282H in three additional unrelated DC probands, including one with Revesz syndrome; a fifth DC proband had a R282S mutation. TINF2 mutations were not present in unaffected relatives, DC probands with mutations in DKC1, TERC, or TERT or 298 control subjects. We demonstrate that a fifth gene, TINF2, is mutated in classical DC and, for the first time, in Revesz syndrome. This represents the first shelterin complex mutation linked to human disease and confirms the role of very short telomeres as a diagnostic test for DC.

TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita. Publishing Authors By Initials

SA Savage,N Giri,GM Baerlocher,N Orr,PM Lansdorp,BP Alter,SA Savage,N Giri,GM Baerlocher,N Orr,PM Lansdorp,BP Alter,

For similar abstracts research abstracts see: abstracts research

PUBMED ID PMID:

MEDLINE DATE:

TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: American journal of human genetics

VOLUME: 82

Page Numbers: 501-9

Journal Abbreviation: Am. J. Hum. Genet.

ISSN: 1537-6605

DAY: 31

MONTH: 01

YEAR: 2008

TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 370475

TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita. Keywords Mesh Terms:

KEYWORDS:

MESH TERMS:

Chemical & Substance for Abstract: TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita. Information

Substance Name:

Registry Number:

Grant and Affiliation Information for TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita.

AFFILIATION: Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.

Country: United States

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Am J Hum Genet

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita Related Publications

• A tensor higher-order singular value decomposition for integrative analysis of DNA microarray data from different studies.
• Acute decidual endometritis and metritis.
• Analyzing the results of the treating to new targets study.
• Catching the news: Processing strategies in listening to dialogs as measured by ERPs.
• Clinical prognosis, pre-existing conditions and the use of reperfusion therapy for patients with ST segment elevation acute myocardial infarction.
• Darwin and the linguists: the coevolution of mind and language, Part 1. Problematic friends.
• Darwin and the linguists: the coevolution of mind and language, Part 2. The language-thought relationship.
• Darwin's artificial selection analogy and the generic character of "phyletic" evolution.
• Diagnosis, genetics, and management of inherited bone marrow failure syndromes.
• Effects of circumscribed interests on the social behaviors of children with autism spectrum disorders.
• Genomic signal processing: from matrix algebra to genetic networks.
• Healthcare should not be a vehicle for transmission of hepatitis C virus.
• High-dose statins are cost-effective compared with conventional-dose statins in patients with acute coronary syndromes.
• Histologic and Colposcopic Correlates of ASCUS Pap Smears in Pregnancy.
• Inadequate and infrequent are not alike: ERPs to deviant prosodic patterns in spoken sentence comprehension.
• Malignant myeloid transformation in congenital forms of neutropenia.
• Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure.
• Outcomes of acute myocardial infarction in Canada.
• Pathogen reduction: a precautionary principle paradigm.
• Prevalence and risk factors for bloodborne exposure and infection in correctional healthcare workers.
• Processing prosodic boundaries in natural and hummed speech: an FMRI study.
• Proposal for an epidemilogic survey of selected neurologic, myopathic and ophthalmologic disorders in Israel.
• Readers add stats, support.
• Separated at birth: the interlinked origins of Darwin's unconscious selection concept and the application of sexual selection to race.
• TINF2, a Component of the Shelterin Telomere Protection Complex, Is Mutated in Dyskeratosis Congenita.
• The epidemiology of transfusion-associated hepatitis C in a children's hospital.
• The role of telomere biology in bone marrow failure and other disorders.
• Thiazolidinediones and cardiovascular outcomes in older patients with diabetes.
• Wit and wisdom.
• Word-minimality, epenthesis and coda licensing in the early acquisition of English.