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Titolo:
Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa
Autore:
Takizawa, Y; Hiraoka, Y; Takahashi, H; Ishiko, A; Yasuraoka, I; Hashimoto, I; Aiso, S; Nishikawa, T; Shimizu, H;
Indirizzi:
Keio Univ, Sch Med, Dept Dermatol, Shinjuku Ku, Tokyo 1608582, Japan Keio Univ Tokyo Japan 1608582 ermatol, Shinjuku Ku, Tokyo 1608582, Japan Keio Univ, Sch Med, Dept Anat, Shinjuku Ku, Tokyo 1608582, Japan Keio Univ Tokyo Japan 1608582 pt Anat, Shinjuku Ku, Tokyo 1608582, Japan Ushiku Hifuka Hosp, Ibaragi, Japan Ushiku Hifuka Hosp Ibaragi JapanUshiku Hifuka Hosp, Ibaragi, Japan Hirosaki Univ, Sch Med, Dept Dermatol, Hirosaki, Aomori 036, Japan Hirosaki Univ Hirosaki Aomori Japan 036 atol, Hirosaki, Aomori 036, Japan Hokkaido Univ, Sch Med, Dept Dermatol, Sapporo, Hokkaido 060, Japan Hokkaido Univ Sapporo Hokkaido Japan 060 ol, Sapporo, Hokkaido 060, Japan
Titolo Testata:
JOURNAL OF INVESTIGATIVE DERMATOLOGY
fascicolo: 2, volume: 115, anno: 2000,
pagine: 312 - 316
SICI:
0022-202X(200008)115:2<312:CHFAPM>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
BETA-3 CHAIN; LAMININ-5 LAMB3; DIAGNOSIS; STRATEGY; INTEGRIN; ANTIGEN; COL17A1; ATRESIA; PATIENT;
Keywords:
basement membrane; blister; junctional epidermolysis bullosa; laminin 5; splice mutation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Takizawa, Y Keio Univ, Sch Med, Dept Dermatol, Shinjuku Ku, 35 Shinanomachi, Tokyo 1608582, Japan Keio Univ 35 Shinanomachi Tokyo Japan 1608582 1608582, Japan
Citazione:
Y. Takizawa et al., "Compound heterozygosity for a point mutation and a deletion located at splice acceptor sites in the LAMB3 gene leads to generalized atrophic benign epidermolysis bullosa", J INVES DER, 115(2), 2000, pp. 312-316

Abstract

An autosomal recessive disorder, generalized atrophic benign epidermolysisbullosa, is a rare form of nonlethal type junctional epidermolysis bullosa. It is associated not only with skin fragility but also with other unique clinical features including widespread atrophic skin changes, alopecia, reduced axillary and pubic hair, dysplastic teeth, and dystrophic nails. The majority of generalized atrophic benign epidermolysis bullosa cases are caused by mutations in the COL17A1 gene coding for type XVII collagen (or the 180 kDa bullous pemphigoid antigen). Another candidate gene for mutations insome forms of generalized atrophic benign epidermolysis bullosa is LAMB3 encoding the beta 3 chain of laminin 5. This report documents compound heterozygosity for novel mutations in LAMB3 of a Japanese patient showing typical clinical features of generalized atrophic benign epidermolysis bullosa. One is an A-to-G transversion at the splice acceptor site of intron 14, which is designated as a 1977-2A --> G mutation; the other is a deletion of 94 bp located at the junction of intron 18 and exon 19, which is a 2702-29del94 mutation. Reverse transcriptase polymerase chain reaction analysis suggested skipping of exon 19 in LAMB3 mRNA produced from the allele with 2702-29del94 and impaired stability of the aberrant mRNA transcribed from the second allele with the 1977-2A --> G mutation.

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Documento generato il 10/07/20 alle ore 09:05:20