Compound heterozygosity for two new TERT mutations in a patient with aplastic anemia.

Pediatric Blood & Cancer
Anna AspesiIrma Dianzani

Abstract

Dyskeratosis congenita (DC) is a genetically heterogeneous syndrome characterized by reticular skin pigmentation, nail dystrophy, mucosal leukoplakia, short telomeres, and a predisposition to bone marrow failure and malignancy. Patients carrying mutations in TERT show a wide clinical spectrum of abnormalities, including classical DC, isolated bone marrow failure and lung fibrosis. Here, we report the clinical description and biological analysis of a patient with compound heterozygosity for two new missense mutations in TERT (V96L and V119L). Both mutations segregate with a short telomere phenotype, though only V96L segregates with clinical signs of DC.

References

May 27, 2005·Current Opinion in Genetics & Development·Anna MarroneInderjeet Dokal
Feb 8, 2006·Nature Structural & Molecular Biology·Steven A JacobsThomas R Cech
Dec 28, 2007·Mechanisms of Ageing and Development·Sharon A Savage, Blanche P Alter
Feb 2, 2008·Blood·Rodrigo T Calado, Neal S Young
May 8, 2009·Biochimica Et Biophysica Acta·Michael Kirwan, Inderjeet Dokal

❮ Previous
Next ❯

Citations

Apr 28, 2011·International Journal of Hematology·Jichun Chen
Jan 13, 2012·Annals of the New York Academy of Sciences·Stephan BorteLennart Hammarström
Feb 18, 2011·Journal of Cellular and Molecular Medicine·Jillian E KozielBrittney-Shea Herbert
Nov 22, 2011·Mutation Research·Lea Harrington
Nov 2, 2016·Thorax·Susan K MathaiChristine Kim Garcia

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood And Marrow Transplantation

The use of hematopoietic stem cell transplantation or blood and marrow transplantation (bmt) is on the increase worldwide. BMT is used to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Here is the latest research on bone and marrow transplantation.