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Bitte verwenden Sie diesen Link, wenn Sie dieses Dokument zitieren oder verlinken wollen: https://nbn-resolving.org/urn:nbn:de:gbv:9-opus-31159

FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations

  • Cerebral cavernous malformations (CCMs) are prevalent slow-flow vascular lesions which harbour the risk to develop intracranial haemorrhages, focal neurological deficits, and epileptic seizures. Autosomal dominantly inherited CCMs were found to be associated with heterozygous inactivating mutations in 3 genes, CCM1(KRIT1), CCM2(MGC4607), and CCM3(PDCD10) in 1999, 2003 and 2005, respectively. Despite the availability of high-throughput sequencing techniques, no further CCM gene has been published since. Here, we report on the identification of an autosomal dominantly inherited frameshift mutation in a gene of thus far unknown function, FAM222B(C17orf63), through exome sequencing of CCM patients mutation-negative for CCM1-3. A yeast 2-hybrid screen revealed interactions of FAM222B with the tubulin cytoskeleton and STAMBP which is known to be associated with microcephaly-capillary malformation syndrome. However, a phenotype similar to existing models was not found, neither in fam222bb/fam222ba double mutant zebrafish generated by transcription activator-like effector nucleases nor in an in vitro sprouting assay using human umbilical vein endothelial cells transfected with siRNA against FAM222B. These observations led to the assumption that aberrant FAM222B is not involved in the formation of CCMs.

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Author: Stefanie Spiegler, Bettina Kirchmaier, Matthias Rath, G. Christoph Korenke, Fabian Tetzlaff, Maartje van de Vorst, Kornelia Neveling, Amparo Acker-Palmer, Andreas W. Kuss, Christian Gilissen, Andreas Fischer, Stefan Schulte-Merker, Ute Felbor
URN:urn:nbn:de:gbv:9-opus-31159
URL:http://www.karger.com/msy
DOI:https://doi.org/10.1159/000446884
ISSN:1661-8769
ISSN:1661-8777
Pubmed Id:https://pubmed.ncbi.nlm.nih.gov/27587990
Parent Title (English):Molecular Syndromology
Publisher:S. Karger AG
Place of publication:Basel, Switzerland
Document Type:Article
Language:English
Date of first Publication:2016/06/18
Release Date:2020/09/29
Tag:Angiogenesis; Animal models; Cerebral cavernous malformations; Cerebrovascular disease; Intracerebral haemorrhage
GND Keyword:-
Volume:7
Issue:3
First Page:144
Last Page:152
Faculties:Universitätsmedizin / Institut für Humangenetik
Licence (German):License LogoUrheberrechtlich geschützt