FLOATING-HARBOR SYNDROME: PRESENTATION OF THE FIRST ROMANIAN PATIENT WITH A SRCAP MUTATION AND REVIEW OF THE LITERATURE
Budisteanu M, Bögershausen N, Papuc SM, Moosa S, Thoenes M, Riga D, Arghir A, Wollnik B
*Corresponding Author: Aurora Arghir, M.D., Ph.D., Victor Babes National Institute of Pathology, Medical Genetics Laboratory, 99-101 Splaiul Independentei, 050096 Bucharest, Romania. Tel/Fax: +40-21-319-27-32, ext. 207/+40-21-319-45-28. E-mail: aurora.arghir@ivb.ro
page: 83

REFERENCES

1. Robinson PL, Shohat M, Winter RM, Conte WJ, Gordon-Nesbitt D, Feingold M, et al. A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome) J Pediatr. 1988; 113(4): 703-706. 2. Pelletier G, Feingold M. Case report 1. In: Bergsma D, Eds. Syndrome Identification. White Plains (NY, USA): National Foundation-March of Dimes. 1973;1(1):8-9. 3. Leisti J, Hollister DW, Rimoin DL. The Floating- Harbor syndrome. Birth Defects Orig Artic Ser. 1975; 11(5): 305. 4. Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, et al. Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome. Am J Hum Genet. 2012; 90(2): 308-313. 5. Le Goff C, Mahaut C, Bottani A, Doray B, Goldenberg A, Moncla A, et al. Not all Floating-Harbor syndrome cases are due to mutations in exon 34 of SRCAP. Hum Mutat. 2013; 34(1): 88-92. 6. Nikkel SM, Dauber A, de Munnik S, Connolly M, Hood RL, Caluseriu O, et al. The phenotype of Floating- Harbor syndrome: Clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. Orphanet J Rare Dis. 2013; 8:63. 7. Kehrer M, Beckmann A, Wyduba J, Finckh U, Dufke A, Gaiser U, et al. Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. Clin Genet 2014; 85(5): 498-499. 8. Seifert W, Meinecke P, Krüger G, Rossier E, Heinritz W, Wüsthof A. Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome. BMC Med Genet. 2014; 15: 127. 9. Lacombe D, Patton M A, Elleau C, Battin J. Floating- Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. Eur J Pediatr. 1995; 154(8): 658-661.



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