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A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA)
Author(s) -
Ozawa Tadashi,
Koide Reiji,
Nakata Yasuhiro,
Saitsu Hirotomo,
Matsumoto Naomichi,
Takahashi Kazushi,
Nakano Imaharu,
Orimo Satoshi
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36635
Subject(s) - neurodegeneration , encephalopathy , psychology , medicine , psychiatry , disease , pathology
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 WDR45 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 WDR45 . In this patient, characteristic MRI findings were useful for diagnosis. © 2014 The Authors. American Journal of Medical Genetics published by Wiley Periodicals, Inc.