Kindler syndrome

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Description from OMIM

Kindler syndrome is an autosomal recessive dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling (summary by Jobard et al., 2003).

Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Congenital blistering integumentary 100 % 12668616 2014-04-23
Poikiloderma integumentary 100 % 12668616 2014-04-23
Skin atrophy integumentary 100 % 12668616 2014-04-23
Ichthyosis integumentary 100 % 12668616 2014-04-23
Telangiectasia integumentary 82 % 12668616 2014-04-23
Sun sensitivity integumentary 73 % 12668616 2014-04-23
Gingivitis integumentary 73 % 12668616 2014-04-23
Skin pigmentation changes integumentary 55 % 12668616 2014-04-23
Leucoplakia digestive 55 % 12668616 2014-04-23
Dysphagia digestive 55 % 12668616 2014-04-23
Dental caries digestive 45 % 12668616 2014-04-23
Diarrhea digestive 27 % 12668616 2014-04-23
Anemia circulatory 18 % 12668616 2014-04-23

List of references:

Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.
Florence Jobard, Bakar Bouadjar, Frédéric Caux, Smail Hadj-Rabia, Christina Has, Fumi Matsuda, Jean Weissenbach, Mark Lathrop, Jean-François Prud'homme, Judith Fischer,

Kindler syndrome is a rare autosomal-recessive genodermatosis characterized by bullous poikiloderma with photosensitivity. We report the localization to chromosome 20p12.3 by homozygosity mapping and the identification of a new gene, which we propose to name kindlerin. We found four different homozygous mutations in four consanguineous families from North Africa and Senegal; three are expected to lead to premature stop codons and truncated proteins and the fourth involves a splice site. We were unable to identify a mutation in kindlerin in a fifth consanguineous family from Algeria with a similar phenotype and in which the patient was homozygous for the markers in the 20p12.3 interval. The kindlerin protein contains several domains which are shared by a diverse group of peripheral membrane proteins that function as membrane-cytoskeleton linkers: two regions homologous to band 4.1 domain of which one includes a FERM domain with a NPKY sequence motif, and a third region with a PH or pleckstrin homology domain. Kindlerin might be involved in the bidirectional signaling between integrin molecules in the membrane and the cytoskeleton, and could be involved in cell adhesion processes via integrin signaling.

Human molecular genetics - Apr 2003