Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement.

[kindler syndrome]

Kindler syndrome (online Mendelian Inheritance in Man No . 173650 ) is an autosomal recessive genodermatosis characterized by acral trauma-induced blistering that improves with age and by progressive poikiloderma in later life . Other clinical features include photosensitivity , webbing of the fingers and toes , nail dystrophy , periodontal disease , and mucosal alterations . Aside from esophageal or anal stenosis , gastrointestinal tract involvement seems to be rare in Kindler syndrome . Recently , mutations in the KIND 1 gene that encodes for the membrane-associated protein kindlin-1 have been identified . Kindlin-1 links the actin cytoskeleton to the extracellular matrix and is supposed to have cell-signaling functions owing to different functional domains . In particular , a domain with high homology to 4 .1 /ezrin /radixin /moesin (FERM ) proteins is closely related to the sequences of talin that mediate integrin binding and therefore may play a role in integrin-dependent processes such as cell growth , differentiation , and apoptosis .Complete loss of this multifunctional protein in our patient with Kindler syndrome resulted in severe gastrointestinal tract involvement with hemorrhagic colitis . Mucosa of the descending and sigmoid colon and the rectum showed erosions and ulcers with pseudomembranous alterations of an overall highly vulnerable mucosa . Mutation analysis revealed a homozygous status for the novel mutation 20 /21 delTT in exon 2 of the KIND 1 gene resulting in a preterminal stop codon creating a nonfunctional peptide 17 amino acids in length .Because of our experience with this and another patient , we propose that gastrointestinal tract involvement should be looked at more frequently in Kindler syndrome .

Diseases
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Diseases presenting "different functional domains" symptom

homocystinuria without methylmalonic aciduria

kindler syndrome

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