The Center for Genetic Diseases of the Skin and Hair

West Jerusalem, Israel

The Center for Genetic Diseases of the Skin and Hair

West Jerusalem, Israel
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Techanukul T.,King's College London | Sethuraman G.,All India Institute of Medical Sciences | Zlotogorski A.,The Center for Genetic Diseases of the Skin and Hair | Horev L.,The Center for Genetic Diseases of the Skin and Hair | And 8 more authors.
Acta Dermato-Venereologica | Year: 2011

Kindler syndrome (OMIM 173650) is an autosomal recessive condition characterized by skin blistering, skin atrophy, photosensitivity, colonic infammation and mucosal stenosis. Fewer than 100 cases have been described in the literature. First reported in 1954, the molecular basis of Kindler syndrome was elucidated in 2003 with the discovery of FERMT1 (KIND1) loss-of-function mutations in affected individuals. The FERMT1 gene encodes kindlin-1 (also known as fer-mitin family homologue 1), a 77 kDa protein that localizes at focal adhesions, where it plays an important role in integrin signalling. In the current study, we describe five novel and three recurrent loss-of-function FERMT1 mutations in eight individuals with Kindler syndrome, and provide an overview of genotype-phe-notype correlation in this disorder.© 2011 The Authors.


Ramot Y.,Hebrew University of Jerusalem | Ramot Y.,The Center for Genetic Diseases of the Skin and Hair | Horev L.,Hebrew University of Jerusalem | Horev L.,The Center for Genetic Diseases of the Skin and Hair | And 5 more authors.
Experimental Dermatology | Year: 2010

Recently the causes for various forms of hypotrichosis and atrichia have been identified, increasing our understanding of the pathways involved in hair cycling and morphogenesis. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript were found as the cause for autosomal dominant Marie Unna hereditary hypotrichosis. At present, only two studies identified several pathogenic mutations. We ascertained a Jewish Ashkenazi family with hypotrichosis simplex of the Marie Unna type in a mother and her two children. Sequencing of the upstream ORF U2HR in the 5' UTR of the hairless gene resulted in the identification of a novel heterozygous missense mutation c.74C > T resulting in the amino acid change p.P25L. Functional assays confirmed that this mutation led to increased translation of the main HR ORF. This finding extends the mutations' spectrum of U2HR, and emphasizes its major role in hair growth. © 2010 John Wiley & Sons A/S.


Ramot Y.,Hebrew University of Jerusalem | Ramot Y.,The Center for Genetic Diseases of the Skin and Hair | Sayama K.,Ehime University | Sheffer R.,Hebrew University of Jerusalem | And 5 more authors.
International Journal of Pediatric Otorhinolaryngology | Year: 2010

This case report describes two patients with H syndrome, a multisystemic autosomal recessive disorder, caused by mutations in the SLC29A3 gene. It is characterized by cutaneous hyperpigmentation, camptodactyly or flexion contractures and other features, among them hearing loss. The two patients had hearing loss as their presenting symptom, and had mutations in SLC29A3, one of them a novel mutation. The aim of this paper is to increase awareness to this recently described disorder, and to emphasize that H syndrome should be included in the differential diagnosis of congenital or acquired syndromic hearing loss in children. © 2010 Elsevier Ireland Ltd.

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