A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA). Issue 9 (10th July 2014)

• Record Type: Journal Article
• Authors: Ozawa, Tadashi; Koide, Reiji; Nakata, Yasuhiro; Saitsu, Hirotomo; Matsumoto, Naomichi; Takahashi, Kazushi; Nakano, Imaharu; Orimo, Satoshi
• Is Part Of: American journal of medical genetics. Volume 164:Issue 9(2014.)
• Page Start: 2388
• Page End: 2390
• Publication Date: 2014-07-10
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36635
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga36635-sec-0001" sec-type="section"> <p>Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is an X‐linked dominant neurodegenerative disorder, and is classified as a subtype of neurodegeneration with brain iron accumulation. Recently, de novo heterozygous mutations in <italic>WDR45</italic> at Xp11.23 have been reported in patients with SENDA. We report the clinical and neuroradiological findings of a patient with SENDA with a novel c.322del mutation in <italic>WDR45</italic>. In this patient, characteristic MRI findings were useful for diagnosis. © 2014 The Authors. <italic>American Journal of Medical Genetics</italic> published by Wiley Periodicals, Inc.</p> </sec> </abstract>