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Titolo: A KERATIN-14 MUTATIONAL HOT-SPOT FOR EPIDERMOLYSIS-BULLOSA SIMPLEX, DOWLING-MEARA - IMPLICATIONS FOR DIAGNOSIS
Autore: STEPHENS K; SYBERT VP; WIJSMAN EM; EHRLICH P; SPENCER A;
- Indirizzi:
- UNIV WASHINGTON,DEPT MED,DIV MED GENET SEATTLE WA 98195 UNIV WASHINGTON,DEPT MED,DIV DERMATOL SEATTLE WA 98195 UNIV WASHINGTON,DEPT PEDIAT SEATTLE WA 98195 UNIV WASHINGTON,CHILDRENS ORTHOPED HOSP & MED CTR SEATTLE WA 98105 UNIV WASHINGTON,CHILDRENS ORTHOPED HOSP & MED CTR,DEPT BIOSTAT SEATTLE WA 98105
- Titolo Testata:
- Journal of investigative dermatology
fascicolo: 2,
volume: 101,
anno: 1993,
pagine: 240 - 243
- SICI:
- 0022-202X(1993)101:2<240:AKMHFE>2.0.ZU;2-T
- Fonte:
- ISI
- Lingua:
- ENG
- Soggetto:
- GENES; DISEASE;
- Keywords:
- GENODERMATOSIS; BLISTERS; INTERMEDIATE FILAMENTS; EPIDERMOLYSIS BULLOSA HERPETIFORMIS;
- Tipo documento:
- Note
- Natura:
- Periodico
- Settore Disciplinare:
- Science Citation Index Expanded
- Citazioni:
- 18
- Recensione:
- Indirizzi per estratti:
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- Citazione:
- K. Stephens et al., "A KERATIN-14 MUTATIONAL HOT-SPOT FOR EPIDERMOLYSIS-BULLOSA SIMPLEX, DOWLING-MEARA - IMPLICATIONS FOR DIAGNOSIS", Journal of investigative dermatology, 101(2), 1993, pp. 240-243
Abstract
Recently, two patients with the Dowling-Meara subtype of epidermolysis bullosa simplex (EBS-DM) were reported with different mutations in codon 125 of the keratin 14 gene. To determine whether these are commonmutations, we screened ten EBS-DM patients and their families using single nucleotide primer extension. Four of ten unrelated EBS-DM patients had a G --> A substitution at base pair 434 of codon 125, whereas one case out of ten had a C --> T substitution at position 433 of the same codon. The G434A alteration cosegregated with the disorder in two multigenerational families; no recombination events were detected. In these two families, linkage analysis provided significant evidence in favor of linkage between G434A and the EBS-DM phenotype, with a LOD score of 3.29 at a recombination rate of 0%. Codon 125 substitutions identified in three unrelated sporadic EBS-DM patients were not found in their clinically unaffected parents. Together, these data provide compelling genetic evidence that the codon 125 substitutions are causal for EBS-DM. The high frequency of mutation at this site in individuals with EBS-DM now makes DNA-based diagnosis of this disorder feasible.
ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/12/20 alle ore 06:00:27