Familial neonatal marfan syndrome due to parental mosaicism of a missense mutation in the FBN1 gene

Tekin M., Cengiz F. B., Ayberkin E., Kendirli T., FİTOZ Ö. S., Tutar E., ...Daha Fazla

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, cilt.143A, sa.8, ss.875-880, 2007 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 143A Sayı: 8
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1002/ajmg.a.31660
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.875-880
  • Anahtar Kelimeler: cysteine residue, emphysema, fibrillin-1, mosaicism, neonatal Marfan syndrome, GENOTYPE-PHENOTYPE CORRELATIONS, FACTOR-LIKE DOMAINS, OF-THE-LITERATURE, FIBRILLIN-1 GENE, RECURRENCE
  • Ankara Üniversitesi Adresli: Evet

Özet

We present a family in which three siblings were born with neonatal Marfan syndrome (MFS) to unaffected parents. The clinical findings included joint contractures, large cars, loose skin, ectopia lentis, muscular hypoplasia, aortic root dilatation, mitral and tricuspid valve insufficiency, and pulmonary emphysema. All three siblings died due to cardiorespiratory insufficiency by 2-4 months of age. Screening of the FBN1 gene showed the heterozygous c.3257G > A (p.Cys1086Tyr) mutation in the proband. Mosaicism of the mutation was demonstrated in the somatic cells and in the germ line of the father. Although three examples of parental mosaicism for classical MFS were demonstrated previously, this is the first report of familial Occurrence of neonatal MFS due to a heterozygous mutation in FBN1. In conclusion, the p.Cys1086Tyr mutation in FBN1 is consistently associated with neonatal MFS. Parental mosaicism should always be kept in mind when counseling families with MFS. (c) 2007 Wiley-Liss, Inc,