Abstract
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. 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. Magnetic Resonance data were integrated by genetic analysis and clinical features. Brain Magnetic Resonance study of our patie...Continue Reading
References
Aug 20, 2002·Neuroradiology·P Demaerel
Aug 7, 2003·Clinical Anatomy : Official Journal of the American Association of Clinical Anatomists & the British Association of Clinical Anatomists·J SuganthyRachel Koshi
Mar 23, 2013·Lancet Neurology·Dan DohertyA James Barkovich
Jan 18, 2014·Neuropharmacology·Tjitske KleefstraHans van Bokhoven
Aug 20, 2014·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Erica ShenSchahram Akbarian
Jan 16, 2015·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Thangamadhan BosemaniAndrea Poretti
Jun 17, 2015·Epigenomics·Christina N Vallianatos, Shigeki Iwase
May 11, 2016·Seminars in Fetal & Neonatal Medicine·Kimberly A Aldinger, Dan Doherty
Jun 5, 2016·Journal of Neurology·Niels A FoitChristian G Bien
Jul 18, 2016·Neuroimaging Clinics of North America·Andrea PorettiThierry A G M Huisman
Nov 15, 2016·American Journal of Human Genetics·Michael ZechJuliane Winkelmann
Feb 12, 2017·Cellular and Molecular Life Sciences : CMLS·Xiaoming ZhangLih-Wen Deng
Apr 14, 2017·Journal of Clinical Neurology·Aviv SchupperAvinoam Shuper
Dec 26, 2017·American Journal of Human Genetics·Víctor FaundesSiddharth Banka
Apr 20, 2018·Clinical Genetics·L Larizza, P Finelli
May 14, 2019·American Journal of Human Genetics·Anne H O'Donnell-LuriaLance H Rodan
Jul 30, 2019·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Chinky ChaturMallapragada Gopalakrishna Murthy