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Background  Floating-Harbor syndrome is a rare autosomal dominant short stature syndrome with retarded speech development, intellectual disability and dysmorphic facial features. Recently dominant mutations almost exclusively located in exon 34 of the  Snf2-related CREBBP activator protein  gene were identified to cause FHS.    Methods  Here we report the genetic analysis of 5 patients fulfilling the diagnostic criteria of FHS obtained by Sanger sequencing. All of them presented with short stature, speech delay as well as psychomotor delay and typical facial dysmorphism. Three patients showed a good response to growth hormone treatment.    Results  Two patients demonstrate novel, heterozygous  de novo  frameshift mutations in exon 34 (c.7396delA and c.7218dupT) leading to premature stop mutations in  SRCAP  (p.Val2466Tyrfs*9 and p.Gln2407Serfs*36, respectively). In two further patients we found already known  SRCAP  mutations in exon 34, c.7330C > T and c.7303C > T, respectively, which also lead to premature stop codons: p.Arg2444* and p.Arg2435*. In one patient, we identified a novel  de novo  stop mutation in exon 33 (c.6985C > T, p.Arg2329*) demonstrating that not all FHS cases are caused by mutations in exon 34 of  SRCAP .    Conclusions  Our data confirm a mutational hot spot in the final exon of  SRCAP  in the majority of FHS patients but also show that exon 33 of this gene can be affected.

Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in patients with Floating-Harbor syndrome