Abstract
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 < 70 and usually unspecific pathologic brain features demonstrated by brain Magnetic Resonance imaging. The symptoms of ODLURO syndrome include variably developmental and speech delay, autism, seizures, hypotonia, and dysmorphic features. The aim of the study is to search for correlation between this specific gene mutation and clinical/radiological features, trying to provide new insights in this recently described pathological condition.
Methods
We reviewed the 38 cases collected by O’Donnel-Luria et al., adding three cases of a familial heterozygosis novel mutation in KMT2E gene; different degrees of neurological disorder, subtle dysmorphic features, intellectual disability, epilepsy, and various brain Magnetic Resonance features are described.
Results
Magnetic Resonance data were integrated by genetic analysis and clinical features. Brain Magnetic Resonance study of our patients confirmed peculiar pathologic features previously reported in ODLURO syndrome; cerebellar dysplasia was identified in one of them. All 3 patients had epilepsy, intellectual disability, and mild dysmorphisms.
Conclusions
Our study adds 3 new patients genetically, clinically, and radiologically evaluated to the ODLURO syndrome case series. While CC hypoplasia and widening of subarachnoid spaces are already reported in literature, we document for the first time the presence of cerebellar dysplasia in ODLURO syndrome. We also highlight the extremely low IQ value and the presence of epilepsy in all 3 patients.
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Abbreviations
- CC:
-
Corpus callosum
- CD:
-
Cerebellar dysplasia
- DD:
-
Developmental delay
- ID:
-
Intellectual disability
- IQ:
-
Intelligence quotient
- MRI:
-
Magnetic resonance imaging
- ODLURO syndrome:
-
O’Donnell–Luria–Rodan syndrome
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All authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by Renata Conforti, Silvia Iovine, Gabriella Santangelo e Ferdinando Caranci. The first draft of the manuscript was written by Renata Conforti e Ferdinando Caranci and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.
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Conforti, R., Iovine, S., Santangelo, G. et al. ODLURO syndrome: personal experience and review of the literature. Radiol med 126, 316–322 (2021). https://doi.org/10.1007/s11547-020-01255-2
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DOI: https://doi.org/10.1007/s11547-020-01255-2