Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.

@article{Delahaye2007FamilialCS,
  title={Familial CHARGE syndrome because of CHD7 mutation: clinical intra- and interfamilial variability.},
  author={Andr{\'e}e Delahaye and Yves Sznajer and Stanislas Lyonnet and M. Elmaleh-Berg{\`e}s and Isabelle Delpierre and Sophie Audollent and Sylvette R. Wiener-Vacher and A. L. Mansbach and Jeanne Amiel and Clarisse Baumann and Dominique Br{\'e}mond-Gignac and Tania Atti{\'e}-Bitach and Alain Verloes and D. Sanlaville},
  journal={Clinical genetics},
  year={2007},
  volume={72 2},
  pages={112-21}
}
CHARGE syndrome (OMIM #214800) is a multiple malformation syndrome with distinctive diagnostic criteria, usually because of CHD7 (chromodomain helicase DNA binding 7) haploinsufficiency. Familial occurrence of CHARGE syndrome is rare. We report six patients from two Caucasian families (both with one parent and two children) affected by mild to severe CHARGE syndrome. Direct sequencing of the CHD7 gene was performed in these two unrelated families. A mutation in exon 8 (c.2501C>T - p.S834F) in… CONTINUE READING

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