A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

[epidermolysis bullosa simplex]

Epidermolysis bullosa (EB ) is a group of autosomal dominant and recessive blistering skin diseases in which pathogenic mutations have been reported in 13 different genes encoding structural proteins involved in keratinocyte integrity , as well as cell-matrix or cell-cell adhesion . We now report an inherited skin fragility disorder with a homozygous nonsense mutation in the dystonin gene (DST ) that encodes the coiled-coil domain of the epithelial isoform of bullous pemphigoid antigen 1 , BPAG 1 -e (also known as BP 230 ). The mutation , p .Gln 1124 X , leads to the loss of hemidesmosomal inner plaques and a complete absence of skin immunostaining for BPAG 1 -e , as well as reduced labeling for plectin , the beta 4 integrin subunit , and for type XVII collagen . The 38 -year -old affected individual has lifelong generalized trauma-induced spontaneous blisters and erosions , particularly around the ankles . In addition , he experiences episodic numbness in his limbs , which started at the age of 37 years . These neurological symptoms may also be due to DST gene mutation , although he has a concomitant diagnosis of CADASIL (cerebral arteriopathy , autosomal dominant , with subcortical infarcts and leukoencephalopathy ), a cerebral small -vessel arteriopathy , which thus complicates the genotype-phenotype interpretation . With regard to skin blistering , the clinicopathological findings expand the molecular basis of EB by identifying BPAG 1 -e pathology in a new form of autosomal recessive EB simplex .

Diseases
Validation

Diseases presenting "inherited skin fragility disorder with a homozygous nonsense mutation in the dystonin gene" symptom

epidermolysis bullosa simplex

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