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Article

Non-random length distribution of individual telomeres in immunodeficiency, centromeric instability and facial anomalies syndrome, type I.

Human molecular genetics - 1 Nov 2017

Sagie Shira, Edni Omer, Weinberg Joseph, Toubiana Shir, Kozlovski Tal, Frostig Tzviel, Katzin Nirit, Bar-Am Irit, Selig Sara

Abstract excerpt

Mutations in the de novo DNA methyltransferase DNMT3B lead to Immunodeficiency, Centromeric Instability and Facial anomalies (ICF) syndrome, type I. This syndrome is characterized, among other hypomethylated genomic loci, by severe subtelomeric hypomethylation that is associated with abnormally short telomere length. While it was demonstrated that the mean telomere length is significantly shorter in ICF type I...

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PMID: 28973513
DOI: 10.1093/hmg/ddx313

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