Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bon... more Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany Givi Zhvania Academic Clinic of Pediatrics, Tbilisi State Medical University, Tbilisi, Georgia Cologne Center for Genomics, University of Cologne, Cologne, Germany Department of Pediatrics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany Department of Dermatology, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany Institute of Structural Biology, University of Bonn, School of Medicine, Bonn, Germany
ABSTRACT TP63 mutations result in a variety of rare dominantly inherited syndromes, which represe... more ABSTRACT TP63 mutations result in a variety of rare dominantly inherited syndromes, which represent a spectrum of isolated malformations or overlapping combinations of epidermal appendages anomalies, malformations of the limbs and face, with other features involving organs such as mammary glands, ears and kidney(1) . Genotype-phenotype correlations are based on the location and functional effects of the TP63 mutations(1) , but phenotypic variability between the affected members of the same family has been reported(2) . Moreover, some mutations have been associated with more than one syndrome(3) . This article is protected by copyright. All rights reserved.
Monoallelic desmoglein 1 mutations have been known for many years to cause striate palmoplantar k... more Monoallelic desmoglein 1 mutations have been known for many years to cause striate palmoplantar keratoderma, but only recently, biallelic loss-of-function mutations were associated with a new disorder, designated as SAM syndrome (comprising severe dermatitis, multiple allergies and metabolic wasting) in two consanguineous families. We report on a new case from a third independent family with the homozygous nonsense mutation, c.2659C>T, p.R887* in exon 15 of DSG1 (desmoglein 1 gene). This mutation led to mRNA decay and loss of expression of desmoglein 1. The clinical phenotype consisted of severe palmoplantar keratoderma, dermatitis and multiple allergies. In contrast to the previous cases, malabsorption, hypoalbuminaemia, developmental delay, hypotrichosis or severe recurrent infections were not observed.
Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bon... more Institute of Human Genetics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany Givi Zhvania Academic Clinic of Pediatrics, Tbilisi State Medical University, Tbilisi, Georgia Cologne Center for Genomics, University of Cologne, Cologne, Germany Department of Pediatrics, University of Bonn, School of Medicine & University Hospital Bonn, Bonn, Germany Department of Dermatology, Medical Center University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany Institute of Structural Biology, University of Bonn, School of Medicine, Bonn, Germany
ABSTRACT TP63 mutations result in a variety of rare dominantly inherited syndromes, which represe... more ABSTRACT TP63 mutations result in a variety of rare dominantly inherited syndromes, which represent a spectrum of isolated malformations or overlapping combinations of epidermal appendages anomalies, malformations of the limbs and face, with other features involving organs such as mammary glands, ears and kidney(1) . Genotype-phenotype correlations are based on the location and functional effects of the TP63 mutations(1) , but phenotypic variability between the affected members of the same family has been reported(2) . Moreover, some mutations have been associated with more than one syndrome(3) . This article is protected by copyright. All rights reserved.
Monoallelic desmoglein 1 mutations have been known for many years to cause striate palmoplantar k... more Monoallelic desmoglein 1 mutations have been known for many years to cause striate palmoplantar keratoderma, but only recently, biallelic loss-of-function mutations were associated with a new disorder, designated as SAM syndrome (comprising severe dermatitis, multiple allergies and metabolic wasting) in two consanguineous families. We report on a new case from a third independent family with the homozygous nonsense mutation, c.2659C>T, p.R887* in exon 15 of DSG1 (desmoglein 1 gene). This mutation led to mRNA decay and loss of expression of desmoglein 1. The clinical phenotype consisted of severe palmoplantar keratoderma, dermatitis and multiple allergies. In contrast to the previous cases, malabsorption, hypoalbuminaemia, developmental delay, hypotrichosis or severe recurrent infections were not observed.
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