title: Not all floating-harbor syndrome cases are due to mutations in exon 34 of SRCAP.
abstract: Floating-Harbor syndrome (FHS) is a rare disorder characterized by short stature, delayed bone age, speech delay, and dysmorphic facial features. We report here the molecular analysis of nine cases, fulfilling the diagnostic criteria for FHS. Using exome sequencing, we identified SRCAP as the disease gene in two cases and subsequently found SRCAP truncating mutations in 6/9 cases. All mutations occurred de novo and were located in exon 34, in accordance with the recent report of Hood et al. However, the absence of SRCAP mutations in 3/9 cases supported genetic heterogeneity of FH syndrome. Importantly, no major clinical differences were observed supporting clinical homogeneity in this series of FHS patients.
authors.affiliation: Department of Genetics, INSERM U781, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker, Paris, France.
authors.forename: Carine
authors.initials: C
authors.lastname: Le Goff
authors.forename: Clémentine
authors.initials: C
authors.lastname: Mahaut
authors.forename: Armand
authors.initials: A
authors.lastname: Bottani
authors.forename: Berenice
authors.initials: B
authors.lastname: Doray
authors.forename: Alice
authors.initials: A
authors.lastname: Goldenberg
authors.forename: Anne
authors.initials: A
authors.lastname: Moncla
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.forename: Patrick
authors.initials: P
authors.lastname: Nitschke
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics*; D005260:Female; D018740:Genetic Heterogeneity; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation
chemical_list: D000251:Adenosine Triphosphatases; C119652:SRCAP protein, human