Intrafamiliar phenotype variability of classic Marfan syndrome

Česká verzia

Authors: S. Machalová ¹; E. Čmelová ¹; D. Ďurovčíková ¹; M. Pechová ¹; M. Hikkelová ²
Authors place of work: Klinika lekárskej genetiky SZU a UNB, Bratislava prednostka doc. MUDr. D. Ďurovčíková, CSc. ¹; MedGen, s. r. o., Bratislava vedúci MUDr. RNDr. A. Genčík, CSc. ²
Published in the journal: Čes-slov Pediat 2015; 70 (5): 287-292.
Category: Case Report

Summary

Marfan syndrome is a rare systemic disorder of the connective tissue affecting skeletal, cardiovascular system and also eyes. The estimated prevalence within different ethnic groups is 1:3–5,000.

We provide intra-familiar phenotype variability, new diagnostic criteria and autosomal dominant inheritance information within casuistic of a 16-year old male subject with fully developed signs of Marfan syndrome and within gentle phenotype of his father. We managed to provide evidence of identical, up to now undefined, "splicing" mutation c.7820-1G>A within FBN1 gene in its heterozygous state. The actual usage of genetic diagnostic tests in order to confirm exact diagnosis significantly contributes to improvement of comprehensive health care management provided to subjects with this potentially fatal disorder.

Key words:
Marfan syndrome, phenotype variability, gene FBN1, revised diagnostic criteria

Zdroje

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