Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection
書誌事項
- タイトル別名
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- Novel CUL4B mutation in Cabezas syndrome
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抄録
Cabezas syndrome is a syndromic form of X-linked intellectual disability primarily characterized by a short stature, hypogonadism and abnormal gait, with other variable features resulting from mutations in the CUL4B gene. Here, we report a clinically undiagnosed 5-year-old male with severe intellectual disability. A genome-first approach using targeted exome sequencing identified a novel nonsense mutation [NM_003588.3:c.2698G>T, p.(Glu900*)] in the last coding exon of CUL4B, thus diagnosing this patient with Cabezas syndrome.
収録刊行物
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- Human Genome Variation
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Human Genome Variation 4 16045-, 2017-01-19
Springer Nature
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詳細情報 詳細情報について
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- CRID
- 1050005667231475968
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- NII論文ID
- 120006955876
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- ISSN
- 2054345X
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- 本文言語コード
- en
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- 資料種別
- journal article
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- データソース種別
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- IRDB
- CiNii Articles