dc.contributor.author
Seifert, Wenke
dc.contributor.author
Meinecke, Peter
dc.contributor.author
Krüger, Gabriele
dc.contributor.author
Rossier, Eva
dc.contributor.author
Heinritz, Wolfram
dc.contributor.author
Wüsthof, Achim
dc.contributor.author
Horn, Denise
dc.date.accessioned
2018-06-08T03:29:59Z
dc.date.available
2015-01-12T09:03:50.539Z
dc.identifier.uri
https://refubium.fu-berlin.de/handle/fub188/15302
dc.identifier.uri
http://dx.doi.org/10.17169/refubium-19490
dc.description.abstract
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.
en
dc.rights.uri
http://creativecommons.org/licenses/by/4.0/
dc.subject.ddc
600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit
dc.title
Expanded spectrum of exon 33 and 34 mutations in SRCAP and follow-up in
patients with Floating-Harbor syndrome
dc.type
Wissenschaftlicher Artikel
dcterms.bibliographicCitation
BMC Medical Genetics. - 15 (2014), Artikel Nr. 127
dcterms.bibliographicCitation.doi
10.1186/s12881-014-0127-0
dcterms.bibliographicCitation.url
http://www.biomedcentral.com/1471-2350/15/127
refubium.affiliation
Charité - Universitätsmedizin Berlin
de
refubium.mycore.fudocsId
FUDOCS_document_000000021560
refubium.note.author
Der Artikel wurde in einer Open-Access-Zeitschrift publiziert
refubium.resourceType.isindependentpub
no
refubium.mycore.derivateId
FUDOCS_derivate_000000004347
dcterms.accessRights.openaire
open access