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Am J Med Genet A. 2011 Apr;155A(4):721-4. doi: 10.1002/ajmg.a.33905. Epub 2011 Mar 15.

Progeroid facial features and lipodystrophy associated with a novel splice site mutation in the final intron of the FBN1 gene.

Author information

1
Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, Berlin, Germany. denise.horn@charite.de

Abstract

The association of progeroid features and lipodystrophy was very recently described in a female adult with additional manifestations of Marfan syndrome. Mutation analysis of the fibrillin I (FBN1) gene revealed a novel heterozygous frameshift mutation at the 3' end in that patient. Here, we report on a 3.5-year-old girl with progeroid facial signs of neonatal onset, lipodystrophy, large head circumference with corresponding hydrocephaly, and tall stature at the end of infancy. Her facial appearance showed convincing clinical similarities to the above-mentioned case. We identified a novel heterozygous de novo splice site mutation c.8226+1G>T affecting the last intron of FBN1. We suggest a specific clinical entity characterized by progeroid facial features, lipodystrophy, and at least some clinical signs of Marfan syndrome is associated with a subset of mutations located at the 3' end of FBN1. This phenotype which is different from that of classical Marfan syndrome could be caused by a truncated FBN1 protein which could escape nonsense-mediated RNA decay.

PMID:
21594993
DOI:
10.1002/ajmg.a.33905
[Indexed for MEDLINE]

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