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Am J Med Genet A. 2019 Jul;179(7):1357-1361. doi: 10.1002/ajmg.a.61180. Epub 2019 May 7.

The first case report of medulloblastoma associated with Tatton-Brown-Rahman syndrome.

Author information

1
Department of Physiology and Medical Physics, Royal College of Surgeons in Ireland, Dublin, Ireland.
2
Le service de neurochirurgie pédiatrique, Hopital Mere Femme, Hospices Civils de Lyon, Lyon, France.
3
Service de néphrologie-rhumatologie-dermatologie pédiatriques, Hopital Mere Femme, Hospices Civils de Lyon, Lyon, France.
4
Centre Léon Bérard, Lyon, France.
5
Service de cytogenetique constitutionnelle, Hospices Civils de Lyon, Lyon, France.
6
Service de génétique, CHU de Lyon, Lyon, France.
7
Centre de Recherche en Neurosciences de Lyon, équipe GENDEV, INSERM U1028, CNRS UMR5292, Université Claude Bernard Lyon 1, Lyon, France.

Abstract

DNMT3A codes for a DNA methyl transferase enzyme that plays a central role embryogenesis. Somatic mutations in this gene have been associated with tumorigenesis and are associated with a number of cancers. The recently described Tatton-Brown-Rahman syndrome (TBRS) is due to heterozygous germline mutations in the DNMT3A gene. So far, only one case of hematological malignancy associated with TBRS have been reported. Here, we describe the first case presenting with TBRS and medulloblastoma. We also discuss the associations between mutations in DNMT3A found in TBRS, AML, and medulloblastoma.

KEYWORDS:

Tatton-Brown-Rahman syndrome; medulloblastoma; overgrowth intellectual disability

PMID:
31066180
DOI:
10.1002/ajmg.a.61180

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