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Titolo:
Sequence analysis of fibroblast growth factor receptor 2 (FGFR2) in Japanese patients with craniosynostosis
Autore:
Sakai, N; Tokunaga, K; Yamazaki, Y; Shida, H; Sakata, Y; Susami, T; Nakakita, N; Takato, T; Uchinuma, E;
Indirizzi:
Kitasato Univ, Sch Med, Dept Plast & Reconstruct Surg, Sagamihara, Kanagawa 2288555, Japan Kitasato Univ Sagamihara Kanagawa Japan 2288555 , Kanagawa 2288555, Japan Univ Tokyo, Grad Sch Med, Dept Human Genet, Tokyo, Japan Univ Tokyo Tokyo Japan yo, Grad Sch Med, Dept Human Genet, Tokyo, Japan Univ Tokyo, Sch Med, Dept Oral Maxillosurg Dent Surg, Tokyo 113, Japan Univ Tokyo Tokyo Japan 113 Oral Maxillosurg Dent Surg, Tokyo 113, Japan
Titolo Testata:
JOURNAL OF CRANIOFACIAL SURGERY
fascicolo: 6, volume: 12, anno: 2001,
pagine: 580 - 585
SICI:
1049-2275(200111)12:6<580:SAOFGF>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
IMMUNOGLOBULIN-LIKE DOMAIN; JACKSON-WEISS-SYNDROME; CROUZON-SYNDROME; APERT-SYNDROME; PFEIFFER-SYNDROME; GENE CAUSE; MUTATIONS; ACTIVATION; HETEROGENEITY; SPECIFICITY;
Keywords:
craniosynostosis; Crouzon syndrome; Apert syndrome; fibroblast growth factor receptor; FGFR2 and mutation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
43
Recensione:
Indirizzi per estratti:
Indirizzo: Sakai, N Kitasato Univ, Sch Med, Dept Plast & Reconstruct Surg, 1-15-1 Kitasato, Sagamihara, Kanagawa 2288555, Japan Kitasato Univ 1-15-1 Kitasato Sagamihara Kanagawa Japan 2288555 n
Citazione:
N. Sakai et al., "Sequence analysis of fibroblast growth factor receptor 2 (FGFR2) in Japanese patients with craniosynostosis", J CRANIOF S, 12(6), 2001, pp. 580-585

Abstract

Recently, mutations of the fibroblast growth factor receptor (FGFR) genes have been detected in syndromic craniosynostosis. We examined nucleotide sequences of FGFR2 in Japanese craniosynostosis patients (Crouzon syndrome: 9cases; Apert syndrome: 6 cases; scaphocephaly: 3 cases as nonsyndromic patients) by polymerase chain reaction (PCR) followed by direct sequencing methods. The results demonstrated FGFR2 heterozygous mutations at codons 252, 290 of exon 7, and at codon 342, 354 of exon 9 in Crouzon syndromes. In Apert syndrome patients, Ser252Trp and Pro253Arg were detected in five and onepatients, respectively. No mutation was detected in one case of Crouzon, all cases of scaphocephaly and healthy individuals. Thus far sequence analysis of FGFR2 in syndromic craniosynostosis has been reported in many white patients, whereas in Japanese only several cases have been studied. The current study with 18 patients confirmed that a similar series of mutations occur in Japanese patients as in white patients regardless of ethnicity and environment. The frequency of the mutation was 82% (9/11 cases) in Japanese Crouzon patients. The ratio of S252W:P253R was 5 : 1 in Japanese Apert patients. Morever, in Japanese Apert patients, complication rate of cleft palatewas 60% for mutation of Ser252Trp and 0 of 2 patients for Pro253Arg, with their syndactyly score being 4.90 and 5.50, respectively.

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Documento generato il 04/07/20 alle ore 21:02:50