| A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome. | |
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MedLine Citation:
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PMID: 20002452 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Cabezas syndrome (MIM 300354) is a recently identified syndromic form of X-linked mental retardation (XLMR) caused by mutations in the CUL4B gene. In total, nine XLMR families carrying mutations in the CUL4B gene have been described to date. Here, we present a detailed clinical phenotype of three affected brothers of Polish descent. Based on the symptoms, we made a clinical diagnosis of Cabezas syndrome, which was subsequently confirmed by identification of a novel nonsense mutation (c.2107A-->T, p.703K-->X) in exon 18 of the CUL4B gene. The mutation was inherited from an asymptomatic mother and was present in all three affected brothers. The patients presented with typical features of Cabezas syndrome, such as severe mental retardation, speech impairment, hyperactivity, seizures, intention tremor, inguinal hernia, small feet, and craniofacial dysmorphism. In addition to previously described symptoms, syndactyly of the second and third toes and skin manifestations (hyperhydrosis and keratosis pilaris) were present in our cases. Our report provides further support that Cabezas syndrome is a recognizable syndromic form of XLMR. We conclude that the CUL4B gene should be screened in males with severe speech impairment and primary intention tremor, especially if characteristic facial dysmorphism is also present. |
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Authors:
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M Badura-Stronka; A Jamsheer; A Materna-Kiryluk; A Sowi?ska; K Kiryluk; B Budny; A Latos-Biele?ska |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2009-12-10 |
Journal Detail:
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Title: Clinical genetics Volume: 77 ISSN: 1399-0004 ISO Abbreviation: Clin. Genet. Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-01-25 Completed Date: 2010-04-16 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
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Languages: eng Pagination: 141-4 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland. bstronka@gmail.com |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Codon, Nonsense* Cullin Proteins / chemistry, genetics* Female Humans Male Mental Retardation, X-Linked / genetics* Pedigree |
| Chemical | |
Reg. No./Substance:
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0/CUL4B protein, human; 0/Codon, Nonsense; 0/Cullin Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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