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

Mustafa Tekin, Filiz Başak Cengiz, Eda Ayberkin, Tanil Kendirli, Suat Fitoz, Ercan Tutar, Ergin Çiftçi, Atakan Conba

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31 Scopus citations

Abstract

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 ears, 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.

Original languageEnglish (US)
Pages (from-to)875-880
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number8
DOIs
StatePublished - Apr 15 2007

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Keywords

  • Cysteine residue
  • Emphysema
  • Fibrillin-1
  • Mosaicism
  • Neonatal Marfan syndrome

ASJC Scopus subject areas

  • Genetics(clinical)

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