| HID and KID syndromes are associated with the same connexin 26 mutation. | |
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MedLine Citation:
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PMID: 12072059 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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BACKGROUND: Keratitis-ichthyosis-deafness (KID) syndrome is a debilitating ectodermal dysplasia that predisposes patients to develop squamous cell carcinomas in addition to leading to profound sensory deafness and erythrokeratoderma. We recently demonstrated that KID can be caused by a specific missense mutation in connexin 26 (GJB2). Another syndrome, called hystrix-like ichthyosis-deafnesss (HID) syndrome, strongly resembles the KID syndrome. These disorders are distinguished mainly on the basis of electron microscopic findings. We hypothesized that KID and HID syndromes may be genetically related. OBJECTIVE: To demonstrate by mutation analysis that HID and KID syndromes are genetically indistinguishable. METHODS: DNA was extracted from paraffin-embedded tissue samples of the first HID syndrome patient described in the literature. Since the KID syndrome mutation abolishes an AspI restriction site, we were able to screen the patient's DNA by polymerase chain reaction and subsequent restriction enzyme analysis. RESULTS: Restriction analysis of the connexin 26 gene in HID syndrome demonstrated the presence of the KID syndrome mutation that we previously described. This result was confirmed by direct DNA sequencing. CONCLUSIONS: We show that KID and HID syndromes are identical at the molecular level and confirm the clinical impression that these syndromes are one and the same. That previous clinical reports made a distinction may be a consequence of sampling artefacts; alternatively, genetic background effects such as the presence of concurrent mutations in other skin-expressed genes may modify the phenotype. |
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Authors:
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M van Geel; M A M van Steensel; W Küster; H C Hennies; R Happle; P M Steijlen; A König |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: The British journal of dermatology Volume: 146 ISSN: 0007-0963 ISO Abbreviation: Br. J. Dermatol. Publication Date: 2002 Jun |
Date Detail:
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Created Date: 2002-06-19 Completed Date: 2002-09-10 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0004041 Medline TA: Br J Dermatol Country: England |
Other Details:
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Languages: eng Pagination: 938-42 Citation Subset: IM |
Affiliation:
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Department of Dermatology, University Hospital Nijmegen, The Netherlands. m.vangeel@derma.azn.nl |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Connexins
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genetics* DNA / analysis Deafness / genetics* Dermatitis, Exfoliative / genetics Humans Hyperkeratosis, Epidermolytic / genetics, pathology Ichthyosis / genetics*, pathology Keratitis / genetics*, pathology Male Microscopy, Electron Mutation, Missense / genetics* Pedigree Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Connexins; 127120-53-0/connexin 26; 9007-49-2/DNA |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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