Early Myoclonic Encephalopathy in 9q33‐q34 Deletion Encompassing STXBP1 and SPTAN1. (16th March 2015)

• Record Type: Journal Article
• Authors: Nicita, Francesco; Ulgiati, Fiorenza; Bernardini, Laura; Garone, Giacomo; Papetti, Laura; Novelli, Antonio; Spalice, Alberto
• Is Part Of: Annals of human genetics. Volume 79:Number 3(2015:May)
• Page Start: 209
• Page End: 217
• Publication Date: 2015-03-16
• Subjects: Human genetics -- Periodicals; 599.935
• DOI: 10.1111/ahg.12106
• Languages: English
• ISSNs: 0003-4800

Abstract

<abstract abstract-type="main"> <title>Summary</title> <p>Deletions in the 9q33‐q34 region have been reported in patients with early onset epileptic encephalopathy, but a consistent phenotype has yet to emerge. We report on the diagnosis of a <italic>de novo</italic> 9q33‐q34.12 microdeletion of 4 Mb in a 15‐month‐old girl presenting with severe psychomotor delay, facial dysmorphisms, thin corpus callosum and early myoclonic encephalopathy. This deletion encompasses 101 RefSeq genes, including the four autosomal dominant genes <italic>STXBP1</italic>, <italic>SPTAN1</italic>, <italic>ENG</italic> and <italic>TOR1A</italic>. We discuss genetic, clinical and epileptic features comparing our patient with those previously reported in the literature.</p> </abstract>