A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis
نویسندگان
چکیده
منابع مشابه
A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.
Epidermolytic hyperkeratosis (EHK) is a blistering skin disease inherited as an autosomal-dominant trait. The disease is caused by genetic defects of the epidermal keratin K1 or K10, leading to an impaired tonofilament network of differentiating epidermal cells. Here, we describe for the first time a kindred with recessive inheritance of EHK. Sequence analysis revealed a homozygous nonsense mut...
متن کاملA novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis
Epidermolytic ichthyosis (EI) is a rare skin disorder characterized by generalized erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later in life. It is caused by autosomal dominant mutations in highly conserved regions of KRT1 and KRT10. To date, only 4 mutations with autosomal recessive inheritance of EI have been described in consanguineous families. All...
متن کاملMild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs.
BACKGROUND Epidermolytic hyperkeratosis in humans is caused by dominant-negative mutations in suprabasal epidermal keratins 1 and 10. However, spontaneous keratin mutations have not been confirmed in a species other than human. OBJECTIVES To describe an autosomal recessive, mild, nonpalmar/plantar epidermolytic ichthyosis segregating in an extended pedigree of Norfolk terrier dogs due to a sp...
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A 6-year-old child presented with generalized hyperkeratosis, most marked over the flexures; windswept deformity of the legs; and limping since 3 years. On the basis of the clinical, histopathologic and biochemical findings, he was diagnosed as a case of epidermolytic hyperkeratosis with rickets. He was treated with parenteral vitamin D3 and calcium supplements orally. Nutritional rickets has b...
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A 20 year old boy presented to the dermatology department for treatment of a congenital icthyosis with a history of generalized erythroderma and trauma related blistering since birth. At the time of presentation he was noted to have red hyperkeratotic plaq corrugated over the joint flexures, elbows, knees after birth erythema and blistering improved but patient developed hyperkeratotic scaling ...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2006
ISSN: 1460-2083,0964-6906
DOI: 10.1093/hmg/ddl028