Novel MLL2 mutation in kabuki syndrome with hypogammaglobulinemia and severe chronic thrombopenia

Florian Brackmann*, Manuela Krumbholz, Thorsten Langer, Wolfgang Rascher, Wolfgang Holter, Markus Metzler

*Korrespondierende/r Autor/-in für diese Arbeit
3 Zitate (Scopus)

Abstract

BACKGROUND:: Kabuki syndrome is a rare condition characterized by distinct dysmorphic features and a broad spectrum of organ anomalies. Differentiating it from other syndromes can be difficult, particularly in patients with incomplete phenotypic manifestation. Recently, MLL2 gene mutations were identified as the underlying genetic cause of Kabuki syndrome in the majority of cases. OBSERVATIONS:: We report the case of an adolescent with an uncommon combination of manifestations, including hypogammaglobulinemia and severe chronic thrombopenia associated with a novel MLL2 mutation. CONCLUSIONS:: This report adds to the growing knowledge on the mutational and phenotypic spectrum of Kabuki syndrome.

OriginalspracheEnglisch
ZeitschriftJournal of Pediatric Hematology/Oncology
Jahrgang35
Ausgabenummer7
Seiten (von - bis)e314-e316
ISSN1077-4114
DOIs
PublikationsstatusVeröffentlicht - 10.2013

Strategische Forschungsbereiche und Zentren

  • Forschungsschwerpunkt: Gehirn, Hormone, Verhalten - Center for Brain, Behavior and Metabolism (CBBM)

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