1999
DOI: 10.1086/302309
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Recurrence of Marfan Syndrome as a Result of Parental Germ-Line Mosaicism for an FBN1 Mutation

Abstract: Mutations in the FBN1 gene cause Marfan syndrome (MFS), a dominantly inherited connective tissue disease. Almost all the identified FBN1mutations have been family specific, and the rate of new mutations is high. We report here a de novo FBN1mutation that was identified in two sisters with MFS born to clinically unaffected parents. The paternity and maternity were unequivocally confirmed by genotyping. Although one of the parents had to be an obligatory carrier for the mutation, we could not detect the mutation… Show more

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Cited by 36 publications
(30 citation statements)
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“…Since neonatal MFS has a poor prognosis leading to death, it is not expected for an affected child with neonatal MFS to become a parent. Despite a high mutation rate in FBN1, only three examples of parental mosaicism have been reported in classical MFS [Montgomery et al, 1998;CollodBeroud et al, 1999;Rantamaki et al, 1999]. In one family, somatic mosaicism of a FBN1 mutation in the mother was associated with subdiagnostic manifestations, whereas germ-line transmission of the identical mutation caused severe and rapidly progressive disease [Montgomery et al, 1998].…”
Section: Discussionmentioning
confidence: 99%
See 1 more Smart Citation
“…Since neonatal MFS has a poor prognosis leading to death, it is not expected for an affected child with neonatal MFS to become a parent. Despite a high mutation rate in FBN1, only three examples of parental mosaicism have been reported in classical MFS [Montgomery et al, 1998;CollodBeroud et al, 1999;Rantamaki et al, 1999]. In one family, somatic mosaicism of a FBN1 mutation in the mother was associated with subdiagnostic manifestations, whereas germ-line transmission of the identical mutation caused severe and rapidly progressive disease [Montgomery et al, 1998].…”
Section: Discussionmentioning
confidence: 99%
“…In one family, somatic mosaicism of a FBN1 mutation in the mother was associated with subdiagnostic manifestations, whereas germ-line transmission of the identical mutation caused severe and rapidly progressive disease [Montgomery et al, 1998]. In another family, mosaicism confined to maternal germ-line resulted in two affected daughters born to unaffected parents [Rantamaki et al, 1999]. Finally, there was somatic and germ-line mosaicism in the unaffected father resulting in classical MFS in two sons [Collod-Beroud et al, 1999].…”
Section: Discussionmentioning
confidence: 99%
“…3 In these instances, the risk to siblings of affected individuals is higher than the general population because of the possibility of genetic mosaicism. 4 The Heart Failure Society of America recently published a practice guideline for evaluation of patients and families with cardiomyopathies (HFSAPG). 5 A detailed 3-generation family history is recommended for all patients with cardiomyopathy to identify at-risk family members and to provide information on penetrance, disease manifestations, and risk of sudden cardiac death (SCD).…”
Section: Considerations and Recommendations For Genetic Testing And Cmentioning
confidence: 99%
“…Interestingly, although the family history of Marfan syndrome was negative, somatic mosaicism was identified in maternal blood cells (10-25% of genomic DNA), and detailed clinical examination showed unilateral lens ectopy [Sipek et al, 2014]. FBN1 somatic or germline mutation mosaicism is a rare, yet well-documented phenomenon [Montgomery et al, 1998;Collod-Béroud et al, 1999;Rantamäki et al, 1999;Tekin et al, 2007;Hilhorst-Hofstee et al, 2011] and possibly underestimated. A case of neonatal presentation of Marfan syndrome has been previously attributed to a double mutant allele in exon 26 of FBN1 [Wang et al, 1996].…”
Section: Discussionmentioning
confidence: 99%