A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy
| Autor: | Marie-Christine Reinert, Holger Thiele, Susann Weissbach, Peter Nürnberg, Thorsten Rosenbaum, Ralph Krätzner, Jutta Gärtner, Janine Altmüller |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine Mild phenotype Mutation Missense Context (language use) Biology Short stature Leukoencephalopathy 03 medical and health sciences Leukoencephalopathies Intellectual disability Genetics medicine Humans Missense mutation Child Genetics (clinical) Cullin Proteins Prognosis medicine.disease Phenotype 030104 developmental biology CUL4B medicine.symptom |
| Zdroj: | American Journal of Medical Genetics Part A. 173:2803-2807 |
| ISSN: | 1552-4833 1552-4825 |
| DOI: | 10.1002/ajmg.a.38390 |
| Popis: | Cabezas type of X-linked syndromic intellectual disability (MRXSC; MIM300354) is a rare X-linked recessive intellectual disability characterized primarily by intellectual disability, short stature, hypogonadism, and gait abnormalities. It is caused by a wide spectrum of hemizygous variants in CUL4B. In a 10-year-old boy with an exceptional leukoencephalopathy pattern, we identified a new missense variant p.Leu329Gln in CUL4B using "Mendeliome" sequencing. However, his phenotype does not include the severe characteristics currently known for MRXSC. We discuss the divergent phenotype and propose a potential connection between the different CUL4B variants and corresponding phenotypes in the context of the current literature as well as 3D homology modeling. |
| Databáze: | OpenAIRE |
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