ODLURO syndrome: personal experience and review of the literature

Introduction The O’Donnell–Luria–Rodan (ODLURO) syndrome, caused by heterozygous mutation in the lysine N -methyltransferase2E (KMT2E) gene in chromosome 7q22, has been recently described. Mutation of KMT2E produces a protein-truncating variant gene that may be responsible for both developmental del...

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Bibliographic Details
Published in:Radiologia medica 2021-02, Vol.126 (2), p.316-322
Main Authors: Conforti, Renata, Iovine, Silvia, Santangelo, Gabriella, Capasso, Raffaella, Cirillo, Mario, Fratta, Mario, Caranci, Ferdinando
Format: Article
Language:English
Subjects:
Autism
Brain
Chromosomes
Correlation analysis
Diagnostic Radiology
DNA-Binding Proteins - genetics
Epilepsy
Extreme values
Humans
Hypotonia
Imaging
Intellectual disabilities
Interventional Radiology
Literature reviews
Lysine
Magnetic resonance imaging
Magnetic Resonance Imaging - methods
Medicine
Medicine & Public Health
Mutation
Neurodevelopmental Disorders - diagnostic imaging
Neurodevelopmental Disorders - genetics
Neurological diseases
Neuroradiology
Quotients
Radiology
Seizures
Signs and symptoms
Syndrome
Ultrasound
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Summary:Introduction The O’Donnell–Luria–Rodan (ODLURO) syndrome, caused by heterozygous mutation in the lysine N -methyltransferase2E (KMT2E) gene in chromosome 7q22, has been recently described. Mutation of KMT2E produces a protein-truncating variant gene that may be responsible for both developmental delay and intellectual disability disorders commonly defined by an Intelligence Quotient 
ISSN:0033-8362
1826-6983
DOI:10.1007/s11547-020-01255-2