Back to Search
Start Over
The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2017 Nov; Vol. 173 (11), pp. 3022-3028. Date of Electronic Publication: 2017 Sep 21. - Publication Year :
- 2017
-
Abstract
- De novo, germline variants in DNMT3A cause Tatton-Brown-Rahman syndrome (TBRS). This condition is characterized by overgrowth, distinctive facial appearance, and intellectual disability. Somatic DNMT3A variants frequently occur in hematologic malignances, particularly acute myeloid leukemia. The Arg882 residue is the most common site of somatic DNMT3A variants, and has also been altered in patients with TBRS. Here we present three additional patients with this disorder attributed to DNMT3A germline variants that disrupt the Arg882 codon, suggesting that this codon may be a germline mutation hotspot in this disorder. Furthermore, based on the investigation of previously reported variants in patients with TBRS, we found overlap in the spectrum of DNMT3A variants observed in this disorder and somatic variants in hematological malignancies.<br /> (© 2017 Wiley Periodicals, Inc.)
- Subjects :
- Codon
DNA Methyltransferase 3A
Female
Genetic Predisposition to Disease
Germ-Line Mutation genetics
Hematologic Neoplasms pathology
Humans
Intellectual Disability pathology
Male
Mutation
Phenotype
DNA (Cytosine-5-)-Methyltransferases genetics
Face physiopathology
Hematologic Neoplasms genetics
Intellectual Disability genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 173
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 28941052
- Full Text :
- https://doi.org/10.1002/ajmg.a.38485