Abstract | BACKGROUND: 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 | M van Geel, M A M van Steensel, W Küster, H C Hennies, R Happle, P M Steijlen, A König |
Journal | The British journal of dermatology
(Br J Dermatol)
Vol. 146
Issue 6
Pg. 938-42
(Jun 2002)
ISSN: 0007-0963 [Print] England |
PMID | 12072059
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Connexins
- GJB2 protein, human
- Connexin 26
- DNA
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Topics |
- Connexin 26
- Connexins
(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
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