NDLI: Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics

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Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics

Content Provider	Springer Nature Link
Author	Kutkowska Kaźmierczak, Anna Niepokój, Katarzyna Wertheim Tysarowska, Katarzyna Giza, Aleksandra Mordasewicz Goliszewska, Maria Bal, Jerzy Obersztyn, Ewa
Copyright Year	2015
Abstract	Connexins belong to the family of gap junction proteins which enable direct cell-to-cell communication by forming channels in adjacent cells. Mutations in connexin genes cause a variety of human diseases and, in a few cases, result in skin disorders. There are significant differences in the clinical picture of two rare autosomal dominant syndromes: keratitis–ichthyosis–deafness (KID) syndrome and hidrotic ectodermal dysplasia (Clouston syndrome), which are caused by GJB2 and GJB6 mutations, respectively. This is despite the fact that, in both cases, malfunctioning of the same family proteins and some overlapping clinical features (nail dystrophy, hair loss, and palmoplantar keratoderma) is observed. KID syndrome is characterized by progressive vascularizing keratitis, ichthyosiform erythrokeratoderma, and neurosensory hearing loss, whereas Clouston syndrome is characterized by nail dystrophy, hypotrichosis, and palmoplantar keratoderma. The present paper presents a Polish patient with sporadic KID syndrome caused by the mutation of p.Asp50Asn in GJB2. The patient encountered difficulties in obtaining a correct diagnosis. The other case presented is that of a family with Clouston syndrome (caused by p.Gly11Arg mutation in GJB6), who are the first reported patients of Polish origin suffering from this disorder. Phenotype diversity among patients with the same genotypes reported to date is also summarized. The conclusion is that proper diagnosis of these syndromes is still challenging and should always be followed by molecular verification.
Starting Page	329
Ending Page	337
Page Count	9
File Format	PDF
ISSN	12341983
Journal	Journal of Applied Genetics
Volume Number	56
Issue Number	3
e-ISSN	21903883
Language	English
Publisher	Springer Berlin Heidelberg
Publisher Date	2015-01-10
Publisher Place	Berlin, Heidelberg
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Keratitis–ichthyosis–deafness syndrome KID Hidrotic ectodermal dysplasia Clouston syndrome GJB2 GJB6 Life Sciences Animal Genetics and Genomics Human Genetics Microbial Genetics and Genomics Plant Genetics & Genomics
Content Type	Text
Resource Type	Article
Subject	Genetics Medicine

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Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics

Clouston Syndrome With Heterozygous GJB6 Mutation p.Ala88Val and GJB2 Variant p.Val27Ile Revealing Mild Sensorineural Hearing Loss and Photophobia

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Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics

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Phenotypic variability in gap junction syndromic skin disorders: experience from KID and Clouston syndromes’ clinical diagnostics