| A mutational hotspot in the 2B domain of human hair basic keratin 6 (hHb6) in monilethrix patients. | |
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MedLine Citation:
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PMID: 9804356 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Monilethrix is an inherited hair dystrophy in which affected, fragile, hairs have an unique beaded morphology. Ultrastructural studies suggest a defect in filament structure in the cortex of the hair, and the hard keratins of hair and nail are thus candidate genes. In several families with autosomal dominant monilethrix, the disorder has been linked to the type II keratin gene cluster at chromosome 12q13. Recently, causative mutations in the critical helix termination motif in the 2B domain of the human hair basic keratin 6 (hHb6) have been identified. We now report the results of sequencing this domain in 13 unrelated families or cases with monilethrix. Five of the 13 had the same mutation as previously found, a G to A transversion leading to a lysine for glutamic acid substitution (E413K) in the 2B domain (residue 117 of the 2B helix) of hHb6. The mutation was confirmed by a restriction fragment length polymorphism assay developed for this purpose, and, as this mutation is evidently a common cause of the syndrome, for use in screening other cases. In eight families or cases, however, including three in whom linkage data are consistent with a defect at the type II keratin locus, no mutation was found in this domain of hHb6. |
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Authors:
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B P Korge; E Healy; C S Munro; C Pünter; M Birch-Machin; S C Holmes; S Darlington; H Hamm; A G Messenger; J L Rees; H Traupe |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review |
Journal Detail:
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Title: The Journal of investigative dermatology Volume: 111 ISSN: 0022-202X ISO Abbreviation: J. Invest. Dermatol. Publication Date: 1998 Nov |
Date Detail:
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Created Date: 1998-11-18 Completed Date: 1998-11-18 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 0426720 Medline TA: J Invest Dermatol Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 896-9 Citation Subset: IM |
Affiliation:
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Klinik und Poliklinik für Dermatologie und Venerologie, Universität zu Köln, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Family Health Hair Diseases / genetics* Humans Keratins / chemistry, genetics* Pedigree Polymorphism, Restriction Fragment Length Protein Structure, Tertiary |
| Chemical | |
Reg. No./Substance:
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68238-35-7/Keratins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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