Cabezas syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Cabezas syndrome. This is caused by mutations in the CUL4B gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the CUL4B gene
- It is a syndromic X linked mental retardation (XLMR) syndrome
Dysmorphic features
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Neurological features
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Skeletal features
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Systemic features
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Magnetic resonance imaging (MRI) brain: features
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Signposts
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References
- Badura-Stronka M, Jamsheer A, Materna-Kiryluk A, et al. A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome. Clin Genet 2010; 77:141-144.
- Okamoto N, Watanabe M, Naruto T, et al. Genome-first approach diagnosed Cabezas syndrome via novel CUL4B mutation detection. Hum Genome Var 2017; 4:16045.
- Weissbach S, Reinert MC, Altmüller J, et al. A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy. Am J Med Genet A 2017; 173:2803-2807.
