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Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita

  1. Author:
    Savage, S. A.
    Giri, N.
    Jessop, L.
    Pike, K.
    Plona, T.
    Burdett, L.
    Alter, B. P.

  2. Author Address

    [Savage, Sharon A.; Giri, Neelam; Alter, Blanche P.] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH,Dept Hlth & Human Serv, Bethesda, MD 20892 USA. [Jessop, Lea] NCI, Lab Translat Genom, Div Canc Epidemiol & Genet, NIH,Dept Hlth & Human Serv, Bethesda, MD 20892 USA. [Pike, Kristen; Plona, Teri] NCI, Adv Technol Program, SAIC Frederick, Frederick, MD 21701 USA. [Burdett, Laurie] NCI Frederick, Core Genotyping Facil, SAIC Frederick Inc, Gaithersburg, MD USA.;Savage, SA, NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, NIH,Dept Hlth & Human Serv, 6120 Execut Blvd,EPS 7018, Bethesda, MD 20892 USA.;savagesh@mail.nih.gov
    1. Year: 2011
    2. Date: Apr
  2. Journal: Journal of Medical Genetics
    1. 48
    2. 4
    3. Pages: 285-288
  4. Type of Article: Article
  5. ISSN: 0022-2593
  1. Abstract:

    Background Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterised by dystrophic nails, abnormal skin pigmentation and oral leukoplakia. Patients are at very high risk of cancer and other medical problems. They have exceedingly short telomeres for their age and approximately 60% have a germline mutation in a gene important in telomere biology (DKC1, TERC, TERT, TINF2, NOP10, or NHP2). The shelterin complex consists of six proteins encoded by TINF2, ACD, POT1, TERF1, TERF2 and TERF2IP, which are essential for telomeric stability. TINF2 mutations are present in 11-25% of patients with DC. Methods Bi-directional sequence analysis was conducted of all exons, intron-exon boundaries and the proximal promoter of the other five shelterin genes to determine whether mutations in these genes were associated with DC. Sixteen mutation-negative patients, nine with DC and seven patients with short telomeres and bone marrow failure, were evaluated. Results Two variants were identified, ACD Ex1+189 G -> A and TERF1 Ex9+59 G -> A, which were each present in one patient and a healthy parent but absent in 364 controls. Three other variants were rare (<1%) but present in both patients and controls. Discussion These data suggest that except for TINF2, mutations in shelterin genes are not a common cause of DC.

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External Sources

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  2. DOI: 10.1136/jmg.2010.082727
  3. View record in Web of Science®
  4. WOS: 000288784300013

Library Notes

  1. Fiscal Year: FY2010-2011
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