A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2014-10

AUTHORS

Hirotomo Saitsu, Jun Tohyama, Tom Walsh, Mitsuhiro Kato, Yu Kobayashi, Ming Lee, Yoshinori Tsurusaki, Noriko Miyake, Yu-ichi Goto, Ichizo Nishino, Akira Ohtake, Mary-Claire King, Naomichi Matsumoto

ABSTRACT

Recently, de novo mutations in TBL1XR1 were found in two patients with autism spectrum disorders. Here, we report on a Japanese girl presenting with West syndrome, Rett syndrome-like and autistic features. Her initial development was normal until she developed a series of spasms at 5 months of age. Electroencephalogram at 7 months showed a pattern of hypsarrhythmia, which led to a diagnosis of West syndrome. Stereotypic hand movements appeared at 8 months of age, and autistic features such as deficits in communication, hyperactivity and excitability were observed later, at 4 years and 9 months. Whole exome sequencing of the patient and her parents revealed a de novo TBL1XR1 mutation [c.209 G>A (p.Gly70Asp)] occurring at an evolutionarily conserved amino acid in an F-box-like domain. Our report expands the clinical spectrum of TBL1XR1 mutations to West syndrome with Rett-like features, together with autistic features. More... »

PAGES

581

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/jhg.2014.71

DOI

http://dx.doi.org/10.1038/jhg.2014.71

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1017097163

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/25102098


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