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  • 1
    Electronic Resource
    Electronic Resource
    Identification of a recurrent mutation in the CYLD gene in Brooke–Spiegler syndrome (2003)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 28 (2003), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Brooke–Spiegler syndrome is an autosomal dominantly inherited disease with predisposition to neoplasms of the skin appendages. The disease has been mapped to 16q, and mutations in the CYLD gene have been identified in families with this disorder. We describe an individual with BSS exhibiting clinical heterogeneity in which a heterozygous frameshift mutation in CYLD, 2172delA, has been identified. These findings extend the body of evidence that mutations in CYLD are involved in Brooke-Spiegler syndrome and provide additional information for phenotype–genotype correlation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2230.2003.01344.x
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  • 2
    Electronic Resource
    Electronic Resource
    Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa (2005)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 30 (2005), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: In this work, we studied the proband in a small nuclear family of Chinese and Dutch/German descent and identified two novel mutations in the type VII collagen gene leading to recessive dystrophic epidermolysis bullosa, Hallopeau–Siemens variant (HS-RDEB). The maternal mutation is a single base pair deletion of a cytosine nucleotide in exon 26, designated 3472delC, resulting in a frameshift and a premature termination codon (PTC) within the same exon, 7 bp downstream of the site of the mutation. The paternal mutation is a G→A transition located at the 5′ donor splice site within intron 51, designated IVS51 + 1G→A. This mutation leads to the activation of a cryptic splice site, 32 bp downstream of the mutation site and to subsequent aberrant out-of-frame splicing, resulting in two alternative mRNA transcripts and a downstream PTC. To our knowledge, these two mutations have not been previously reported. These findings extend the body of evidence for compound heterozygous mutations leading to HS-RDEB and provide the basis for prenatal diagnosis in this family.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.2005.01763.x
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  • 3
    Electronic Resource
    Electronic Resource
    A novel mutation in the ARS (component B) gene encoding SLURP-1 in a family with Mal de Meleda (2003)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 28 (2003), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Mal de Meleda is a rare, autosomal recessive form of palmoplantar keratoderma. The disease has been mapped to chromosome 8qter, and recently mutations in the ARS (component B) gene have been identified in families with this disorder. We describe a small family of Turkish origin with Mal de Meleda and identified a novel homozygous mutation, L98P, in ARS (component B). These findings extend the body of evidence implicating mutations in the ARS (component B) gene in Mal de Meleda.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2230.2003.01342.x
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  • 4
    Electronic Resource
    Electronic Resource
    Evaluation of germline CDKN2A, ARF, CDK4, PTEN, and BRAF alterations in atypical mole syndrome (2005)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 30 (2005), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Atypical mole syndrome is a sporadic or an inherited condition with an increased risk of melanoma. Germline mutations in the CDKN2A, ARF, CDK4 and somatic mutations in the PTEN and BRAF genes have been associated with melanoma. In this study, we evaluated genes associated with familial and sporadic melanoma for mutations in 28 probands with the atypical mole syndrome. No sequence alterations in the coding regions or in the splice junctions of CDKN2A, ARF, CDK4, PTEN or BRAF were identified. These data suggest that genes evaluated in this study are unlikely to be candidate genes for atypical mole syndrome and support the notion that unknown susceptibility gene/s for this disease exist.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.1365-2230.2004.01656.x
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  • 5
    Electronic Resource
    Electronic Resource
    Identification of a recurrent mutation in keratin 6a in a patient with overlapping clinical features of pachyonychia congenita types 1 and 2 (2003)
    Oxford, UK : Blackwell Science Ltd
    Clinical and experimental dermatology 28 (2003), S. 0 
    Details
    ISSN: 1365-2230
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Summary Pachyonychia congenita is characterized by hypertrophic nail dystrophy and associated ectodermal features. PC-1 subtype is associated with mutations in keratins 6a or 16, whereas PC-2 subtype is linked to mutations in keratins 6b or 17. The correlation between the mutated gene and the type of PC has generally been consistent. In this report, we describe a case with overlapping clinical features of PC-1 and PC-2 in which a mutation in K6a was identified.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2230.2003.01263.x
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  • 6
    Electronic Resource
    Electronic Resource
    BRAF V599E Mutation is Not Age Dependent: It is Present in Common Melanocytic Nevi in Both Children and Adults (2005)
    Oxford, UK; Malden, USA : Blackwell Publishing Ltd/Inc.
    Journal of cutaneous pathology 32 (2005), S. 0 
    Details
    ISSN: 1600-0560
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: BRAF encodes a serine-threonine kinase, which acts in the RAS/RAF/MAPK pathway transducing regulatory signals from RAS to MEK1/2. Somatic mutations in BRAF have been identified in 53–80% of primary melanomas and 70–90% of common melanocytic nevi. More than 90% of these mutations consist of a valine to glutamate substitution at codon 599 (V599E) of exon 15. While a high prevalence of BRAF mutations in common melanocytic nevi has been reported in adults, nevi in children have not been studied. Of interest, we have previously shown that Spitz nevi in children do not harbor mutations in BRAF. To investigate the association of BRAF mutations with patient age, we studied common melanocytic nevi in children for the V599E activating mutation. Tumor cells were microdissected from 6 common melanocytic nevi in children 10 years of age or younger, and analyzed for the V599E mutation in BRAF by allele-specific PCR and gel electrophoresis. In 6 of 6 (100%) nevi, the V599E mutant allele was observed. Our data suggest that similar genetic pathways are involved in the development of common melanocytic nevi in children and adults. The absence of BRAF mutations in Spitz nevi in children is therefore associated with tumor type, not patient age.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.0303-6987.2005.320ax.x
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  • 7
    Electronic Resource
    Electronic Resource
    Germline PTEN mutations in three families with Cowden syndrome (2000)
    Copenhagen : Munksgaard International Publishers
    Experimental dermatology 9 (2000), S. 0 
    Details
    ISSN: 1600-0625
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Abstract: Cowden syndrome (CS) is an autosomal dominant inherited disorder characterized by hamartomas in a variety of tissues including the skin, thyroid, breast, endometrium, and the brain. Individuals with CS are predisposed to development of malignancy in these organs, especially the breast and the thyroid. We describe 3 unrelated individuals with CS associated with germline PTEN mutations. While the frameshift (375insTTTA) and the missense (Gly69Arg) mutations reported herein are novel in CS, the nonsense (Arg130stop) mutation has been described in 2 families with CS and in a single family exhibiting both CS and Bannayan–Zonana phenotype.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1034/j.1600-0625.2000.009002152.x
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  • 8
    Electronic Resource
    Electronic Resource
    Spitzoid Melanomas in Children, Like Spitz Nevi, Lack Common Activating Mutations in BRAF and NRAS (2005)
    Oxford, UK; Malden, USA : Blackwell Publishing Ltd/Inc.
    Journal of cutaneous pathology 32 (2005), S. 0 
    Details
    ISSN: 1600-0560
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: Spitzoid melanoma in children is a rare tumor that can mimic Spitz nevus both clinically and histologically. Recently, dysregulation of the RAS-RAF-MAPK signalling pathway was reported in 89% of sporadic melanomas due to activating mutations in the BRAF or NRAS gene. BRAF mutations are found in 53–80% of primary melanomas and 70–90% of common melanocytic nevi, whereas none are present in Spitz nevi. NRAS mutations occur in 5–37% of melanomas and 9–56% of common melanocytic nevi. The mutational status of NRAS in Spitz nevi is unknown. This is the first study analyzing the mutational profile of BRAF and NRAS in Spitzoid melanomas occurring in prepubertal children (10 years of age or younger). Primary tumor cells were isolated via laser capture microdissection from 10 typical Spitz nevi and 10 metastatic Spitzoid melanomas. Exons 11 and 15 of BRAF and exons 2 and 3 of NRAS were amplified by PCR and directly sequenced. Common activating mutations were not identified in BRAF or NRAS. Absence of the V599E hot-spot mutation in BRAF was further confirmed by allele-specific PCR. We conclude that Spitzoid melanomas in children share clinical, histological and genetic similarities to Spitz nevi, and are genetically distinct from other melanoma subtypes.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1111/j.0303-6987.2005.320cd.x
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