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Titolo:
Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy
Autore:
Ishii, T; Suzuki, Y; Ando, N; Matsuo, N; Ogata, T;
Indirizzi:
Keio Univ, Sch Med, Dept Pediat, Shinjuku Ku, Tokyo 1608582, Japan Keio Univ Tokyo Japan 1608582 Pediat, Shinjuku Ku, Tokyo 1608582, Japan Toyohashi Municipal Hosp, Dept Pediat, Toyohashi, Aichi 4418570, Japan Toyohashi Municipal Hosp Toyohashi Aichi Japan 4418570 chi 4418570, Japan
Titolo Testata:
JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM
fascicolo: 8, volume: 85, anno: 2000,
pagine: 2922 - 2926
SICI:
0021-972X(200008)85:8<2922:NMOTAR>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
COMMON; TYPE-1;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
14
Recensione:
Indirizzi per estratti:
Indirizzo: Ishii, T Keio Univ, Sch Med, Dept Pediat, Shinjuku Ku, 35 Shinanomachi, Tokyo 1608582, Japan Keio Univ 35 Shinanomachi Tokyo Japan 1608582 kyo 1608582, Japan
Citazione:
T. Ishii et al., "Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy", J CLIN END, 85(8), 2000, pp. 2922-2926

Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) isthe first multiple autoimmune disease that has been shown to be caused by mutations of a single gene named autoimmune regulator (AIRE). Fourteen different mutations of the AIRE gene have been identified in 61 patients from 55 families with APECED. However there has been no report documenting AIRE gene mutations in the Asian population. We report on 2 siblings with variable manifestations of APECED who were born to a Japanese mother and a Korean father. The 11-yr-old girl had intractable thrush and ungual candidiasis, hypoparathyroidism, and occipital alopecia. The 9-yr-old boy had mild ungual candidiasis alone. Direct sequencing revealed novel frameshift mutations of the AIRE gene: an insertion of a cytosine at nucleotide 29635 at the exon 10 (29635insC), which should lead to a premature termination at the codon 371, producing a truncated protein missing the second plant homeodomain-type zinc finger motif and the third LXXLL motif, and a deletion of a guanine at nucleotide 33031 at the exon 13 (33031delG), which should result in a premature termination at the codon 520, yielding a truncated protein missing the third LXXLL motif. The mother was heterozygous for 29635insC, and the father was heterozygous for 33031delG. The frameshift mutations were undetected in 40 alleles of 20 Japanese control subjects. The results imply that the C-terminus of AIRE protein including the third LXXLL motif plays a critical role in the development of APECED,and that the phenotypic spectrum can vary between siblings with the same mutations.

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Documento generato il 18/01/21 alle ore 16:33:12