Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome

Natsuga, Ken; Nishie, Wataru; Shinkuma, Satoru; Nakamura, Hideki; Matsushima, Yoichiro; Tatsuta, A.; Komine, Mayumi; Shimizu, Hiroshi

doi:10.1016/j.jdermsci.2010.11.008

Cited by 11 publications

(9 citation statements)

References 27 publications

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“…of SCCOutcomeRefsM, 16ISV9-6 T > Ac.1140-6 T > AFS and PTC16Right lower legWD aggressive SCCPresent for 10 years as a hyperkeratotic plaque, then progress in 2 months.Deceased.[32]F, 23UDUD23Right handUlcerative and invasive MD SCCMethastasic and Nodes affected[33]M, 40c.1761 T > A and c.1089del/c.1089 + 1delp.Y587X and Exon 8 skipped. (p.L363 fs)27Palm of the right handSCC recurrent 4 timesRecurrent SCC[34]F, 31c.676 C > Tp.Q226X29Fingers and dorsal handWD early agressiveStill aliveUDM, 34c. 456dupAp.D153R fsX433Oral mucosa, extending to tongue, lymph node metastasesWD, early infiltrating SCC with metastasesDeceased at 35 years[2]F, 42c.750G > Ap.W250X34Hard palateWD SCC: unresectable treated with radiation2 years follow up no recurrence.…”

Section: Resultsmentioning

confidence: 99%

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

Guerrero-Aspizua

Conti

Escámez

et al. 2019

Orphanet J Rare Dis

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Background Kindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and poikiloderma. It is caused by mutations in the FERMT1 gene, which encodes kindlin-1, a protein involved in integrin signalling and the formation of focal adhesions. Several reports have shown the presence of non-melanoma skin cancers in KS patients but a systematic study evaluating the risk of these tumors at different ages and their potential outcome has not yet been published. We have here addressed this condition in a retrospective study of 91 adult KS patients, characterizing frequency, metastatic potential and body distribution of squamous cell carcinoma (SCC) in these patients. SCC developed in 13 of the 91 patients. Results The youngest case arose in a 29-year-old patient; however, the cumulative risk of SCC increased to 66.7% in patients over 60 years of age. The highly aggressive nature of SCCs in KS was confirmed showing that 53.8% of the patients bearing SCCs develop metastatic disease. Our data also showed there are no specific mutations that correlate directly with the development of SCC; however, the mutational distribution along the gene appears to be different in patients bearing SCC from SCC-free patients. The body distribution of the tumor appearance was also unique and different from other bullous diseases, being concentrated in the hands and around the oral cavity, which are areas of high inflammation in this disease. Conclusions This study characterizes SCCs in the largest series of KS patients reported so far, showing the high frequency and aggressiveness of these tumors. It also describes their particular body distribution and their relationship with mutations in the FERMT-1 gene. These data reinforce the need for close monitoring of premalignant or malignant lesions in KS patients.

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Section: Resultsmentioning

confidence: 99%

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

Guerrero-Aspizua

Conti

Escámez

et al. 2019

Orphanet J Rare Dis

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“…The blood was obtained from the patient after informed consent and approval by the ethics committee of Hokkaido University. The entire coding region and the exon-intron boundaries of the FERMT1 gene were analysed by PCR and direct sequencing as previously described (8). Mutation analysis revealed the novel mutation c.1564 delC in exon 12 of the FERMT1 gene in the maternal allele, which is predicted to lead to nonsensemediated mRNa decay (Fig.…”

Section: Short Communicationmentioning

confidence: 99%

Kindler Syndrome with Severe Intestinal Involvement: A 31-year Follow-up

Shimizu¹,

Nishie²,

Tsuchiya³

et al. 2014

Acta Derm Venerol

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“…Kindler syndrome is caused by mutations in the FERMT1 gene. To date, approximately 150 patients and 46 mutations including c.1089delG in two Japanese KS patients have been reported 2–4 . Including the present, these three cases with c.1089delG mutation showed typical clinical characteristics as blistering, skin atrophy, poikiloderma, pseudosyndactyly and photosensitivity, and showed no specific characteristics from this genotype.…”

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confidence: 60%