A novel COL7A1 mutation in a Korean patient with Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.

[dystrophic epidermolysis bullosa]

Dystrophic epidermolysis bullosa (DEB ) is an inherited skin fragility disorder that presents various clinical manifestations . DEB is characterized by separation of sublamina densa tissue and abnormalities in the anchoring fibrils that result from mutations in COL 7 A 1 and subsequent defects in type VII collagen . A 16 -month -old boy was diagnosed with Hallopeau-Siemens recessive DEB on the basis of typical skin lesions composed of multiple blisters with moderately healed erosions , scarring on trauma-exposed body sites , including hands and feet , pseudosyndactyly and flexion contractures of the toes , and severely dystrophic nails on the right hand . Genomic DNA from the patient and parents were subjected to direct sequencing for the COL 7 A 1 gene . Two heterozygous mutations were detected in the affected child ; one novel mutation designated c .4232 delC in exon 38 and a single -base substitution (c .6573 +1 G >C ) in intron 81 . Deletion of a single cytosine at codon 1411 within exon 38 had produced a frameshift mutation that created a stop codon at codon 1427 (p .Pro 1411 Leufs *17 ). This intronic base substitution had led to aberrant splicing and a premature termination codon . This is a novel mutation of COL 7 A 1 associated with DEB in a Korean patient , adding to the range of COL 7 A 1 mutations related to DEB .

Diseases
Validation

Diseases presenting "various clinical manifestations" symptom

aniridia

dystrophic epidermolysis bullosa

kabuki syndrome

liposarcoma

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