WDR45 mutations in three male patients with West syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2016-03-31

AUTHORS

Mitsuko Nakashima, Kyoko Takano, Yu Tsuyusaki, Shinsaku Yoshitomi, Masayuki Shimono, Yoshihiro Aoki, Mitsuhiro Kato, Noriko Aida, Takeshi Mizuguchi, Satoko Miyatake, Noriko Miyake, Hitoshi Osaka, Hirotomo Saitsu, Naomichi Matsumoto

ABSTRACT

West syndrome is an early-onset epileptic encephalopathy characterized by clustered spasms with hypsarrhythmia seen on electroencephalogram (EEG). West syndrome is genetically heterogeneous, and its genetic causes have not been fully elucidated. WD Repeat Domain 45 (WDR45) resides on Xp11.23, and encodes a member of the WD repeat protein interacting with phosphoinositides (WIPI) family, which is crucial in the macroautophagy pathway. De novo mutations in WDR45 cause beta-propeller protein-associated neurodegeneration characterized by iron accumulation in the basal ganglia. In this study, we performed whole exome sequencing of individuals with West syndrome and identified three WDR45 mutations in three independent males (patients 1, 2 and 3). Two novel mutations occurred de novo (patients 1 and 2) and the remaining mutation detected in a male patient (patient 3) and his affected sister was inherited from the mother, harboring the somatic mutation. The three male patients showed early-onset intractable seizures, profound intellectual disability and developmental delay. Their brain magnetic resonance imaging scans showed cerebral atrophy. We found no evidence of somatic mosaicism in the three male patients. Our findings indicate that hemizygous WDR45 mutations in males lead to severe epileptic encephalopathy. More... »

PAGES

653-661

Journal

TITLE

Journal of Human Genetics

ISSUE

7

VOLUME

61

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2016.27

DOI

http://dx.doi.org/10.1038/jhg.2016.27

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1029855262

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27030146


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