HID and KID syndromes are associated with the same connexin 26 mutation

M. Van Geel, M. A M Van Steensel, W. Küster, H. C. Hennies, R. Happle, P. M. Steijlen, A. König

Research output: Contribution to journalArticle

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Abstract

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.

Original languageEnglish
Pages (from-to)938-942
Number of pages5
JournalBritish Journal of Dermatology
Volume146
Issue number6
DOIs
Publication statusPublished - 27 Jul 2002
Externally publishedYes

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Porcupines
Ichthyosis
Mutation
Ectodermal Dysplasia
Restriction Mapping
Deafness
Missense Mutation
DNA-Directed DNA Polymerase
Connexin 26
Keratitis-Ichthyosis-Deafness Syndrome
Keratitis, Ichthyosis, and Deafness (KID) Syndrome
DNA Sequence Analysis
Paraffin
Artifacts
Genes
Squamous Cell Carcinoma
Electrons
Phenotype
Polymerase Chain Reaction
Skin

Cite this

Van Geel, M., Van Steensel, M. A. M., Küster, W., Hennies, H. C., Happle, R., Steijlen, P. M., & König, A. (2002). HID and KID syndromes are associated with the same connexin 26 mutation. British Journal of Dermatology, 146(6), 938-942. https://doi.org/10.1046/j.1365-2133.2002.04893.x
Van Geel, M. ; Van Steensel, M. A M ; Küster, W. ; Hennies, H. C. ; Happle, R. ; Steijlen, P. M. ; König, A. / HID and KID syndromes are associated with the same connexin 26 mutation. In: British Journal of Dermatology. 2002 ; Vol. 146, No. 6. pp. 938-942.
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Van Geel, M, Van Steensel, MAM, Küster, W, Hennies, HC, Happle, R, Steijlen, PM & König, A 2002, 'HID and KID syndromes are associated with the same connexin 26 mutation', British Journal of Dermatology, vol. 146, no. 6, pp. 938-942. https://doi.org/10.1046/j.1365-2133.2002.04893.x

HID and KID syndromes are associated with the same connexin 26 mutation. / Van Geel, M.; Van Steensel, M. A M; Küster, W.; Hennies, H. C.; Happle, R.; Steijlen, P. M.; König, A.

In: British Journal of Dermatology, Vol. 146, No. 6, 27.07.2002, p. 938-942.

Research output: Contribution to journalArticle

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T1 - HID and KID syndromes are associated with the same connexin 26 mutation

AU - Van Geel, M.

AU - Van Steensel, M. A M

AU - Küster, W.

AU - Hennies, H. C.

AU - Happle, R.

AU - Steijlen, P. M.

AU - König, A.

PY - 2002/7/27

Y1 - 2002/7/27

N2 - 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.

AB - 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.

KW - Cancer

KW - Connexin

KW - Deafness

KW - Erythrokeratoderma

KW - Ichthyosis

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