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Titolo:
Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome
Autore:
Glaser, RL; Jiang, W; Boyadjiev, SA; Tran, AK; Zachary, AA; Van Maldergem, L; Johnson, M; Walsh, S; Oldridge, M; Wall, SA; Wilkie, AOM; Jabs, EW;
Indirizzi:
Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Dept Med, Baltimore, MD USA Johns Hopkins Univ Baltimore MD USA net Med, Dept Med, Baltimore, MD USA Johns Hopkins Univ, Sch Med, Ctr Craniofacial Dev & Disorders, Dept Pediat, Baltimore, MD USA Johns Hopkins Univ Baltimore MD USA ders, Dept Pediat, Baltimore, MD USA Johns Hopkins Univ, Sch Med, Ctr Craniofacial Dev & Disorders, Dept Plast Surg, Baltimore, MD USA Johns Hopkins Univ Baltimore MD USA , Dept Plast Surg, Baltimore, MD USA Univ Maryland, Baltimore Coll Dent Surg, Dept Orthodont, Baltimore, MD 21201 USA Univ Maryland Baltimore MD USA 21201 t Orthodont, Baltimore, MD 21201 USA Ctr Genet Med, Inst Pathol & Genet, Loverval, Belgium Ctr Genet Med Loverval Belgium , Inst Pathol & Genet, Loverval, Belgium John Radcliffe Hosp, Inst Mol Med, Oxford OX3 9DU, England John Radcliffe Hosp Oxford England OX3 9DU Med, Oxford OX3 9DU, England Radcliffe Infirm, Oxford Craniofacial Unit, Oxford OX2 6HE, England Radcliffe Infirm Oxford England OX2 6HE al Unit, Oxford OX2 6HE, England
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 3, volume: 66, anno: 2000,
pagine: 768 - 777
SICI:
0002-9297(200003)66:3<768:POOFMI>2.0.ZU;2-G
Fonte:
ISI
Lingua:
ENG
Soggetto:
APERT-SYNDROME; GENE; ACHONDROPLASIA; IDENTIFICATION; INSERTIONS; AGE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
41
Recensione:
Indirizzi per estratti:
Indirizzo: Jabs, EW Johns Hopkins Sch Med, Inst Med Genet, Childrens Med & Surg Ctr 1004, 600 N Wolfe St, Baltimore, MD 21287 USA Johns Hopkins Sch Med 600 N Wolfe St Baltimore MD USA 21287 7 USA
Citazione:
R.L. Glaser et al., "Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome", AM J HU GEN, 66(3), 2000, pp. 768-777

Abstract

Crouzon syndrome and Pfeiffer syndrome are both autosomal dominant craniosynostotic disorders that can be caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. To determine the parental origin of theseFGFR2 mutations, the amplification refractory mutation system (ARMS) was used, ARMS IS PCR primers were developed to recognize polymorphisms that could distinguish maternal and paternal alleles, A total of 4,374 bases between introns IIIa and 11 of the FGFR2 gene were sequenced and were assayed by heteroduplex analysis, to identify polymorphisms. Two polymorphisms (1333TA/TATA and 2710 C/T) were found and were used with two previously described polymorphisms, to screen a total of 41 families, Twenty-two of these families were shown to be informative (11 for Crouzon syndrome and 11 for Pfeiffer syndrome), Eleven different mutations in the 22 families mere detected byeither restriction digest or allele-specific oligonucleotide hybridizationof ARMS PCR products. We molecularly proved the origin of these different mutations to be paternal for all informative cases analyzed (P = 2.4 x 10(-7); 95% confidence limits 87%-100%). Advanced paternal age was noted for the fathers of patients with Crouzon syndrome or Pfeiffer syndrome, compared with the fathers of control individuals (34.50 +/- 7.65 years vs. 30.45 +/-1.28 years, P < .01), Our data on advanced paternal age corroborates and extends previous clinical evidence based on statistical analyses as well as additional reports of advanced paternal age associated with paternal originof three sporadic mutations causing Apert syndrome (FGFR2) and achondroplasia (FGFR3). Our results suggest that older men either have accumulated or are more susceptible to a variety of germline mutations.

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Documento generato il 19/01/20 alle ore 20:13:09