Muscle Hemangiomatosis presenting as a severe feature in a patient with the pten mutation: Expanding the phenotype of vascular malformations in bannayan-riley-ruvalcaba syndrome
dc.citation.epage | 50 | en_US |
dc.citation.issueNumber | 1 | en_US |
dc.citation.spage | 45 | en_US |
dc.citation.volumeNumber | 15 | en_US |
dc.contributor.author | Soysal, Y. | en_US |
dc.contributor.author | Acun, T. | en_US |
dc.contributor.author | Lourenço, C.M. | en_US |
dc.contributor.author | Marques Jr. W. | en_US |
dc.contributor.author | Yakicier, M.C. | en_US |
dc.date.accessioned | 2016-02-08T09:49:17Z | |
dc.date.available | 2016-02-08T09:49:17Z | |
dc.date.issued | 2012 | en_US |
dc.department | Department of Molecular Biology and Genetics | en_US |
dc.description.abstract | Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal, dominantly-inherited, hamartoma syndrome with distinct phenotypic features. Mutations in the PTEN gene have been identified in PTEN hamartoma tumor syndromes. Our aim was to determine the correlation of phenotype-genotype relationships in a BRRS case. We have evaluated a PTEN mutation in a patient with vascular anomalies and the phenotypic findings of BRRS. We described an 8-year-old girl with the clinical features of BRRS, specifically with vascular anomalies. The mutation in the PTEN gene was identified by DNA sequencing. In our patient, we defined a de novo nonsense R335X (c.1003 C>T) mutation in exon 8, which results in a premature termination codon. Due to vascular anomalies and hemangioma, the patient's left leg was amputated 1 year after the hemangioma diagnosis. Bannayan - Riley - Ruvalcaba syndrome patients with macrocephaly and vascular anomalies should be considered for PTEN mutation analysis and special medical care. | en_US |
dc.description.provenance | Made available in DSpace on 2016-02-08T09:49:17Z (GMT). No. of bitstreams: 1 bilkent-research-paper.pdf: 70227 bytes, checksum: 26e812c6f5156f83f0e77b261a471b5a (MD5) Previous issue date: 2012 | en |
dc.identifier.doi | 10.2478/v10034-012-0007-x | en_US |
dc.identifier.issn | 13110160 | |
dc.identifier.uri | http://hdl.handle.net/11693/21650 | |
dc.language.iso | English | en_US |
dc.relation.isversionof | 10.2478/v10034-012-0007-x | en_US |
dc.source.title | Balkan Journal of Medical Genetics | en_US |
dc.subject | Bannayan - Riley - Ruvalcaba Syndrome (BRRS) | en_US |
dc.subject | Hemangioma | en_US |
dc.subject | Macrocephaly | en_US |
dc.subject | PTEN gene | en_US |
dc.subject | Vascular anomalies | en_US |
dc.subject | DNA | en_US |
dc.subject | phosphatidylinositol 3,4,5 trisphosphate 3 phosphatase | en_US |
dc.subject | angiolipoma | en_US |
dc.subject | angiomyolipoma | en_US |
dc.subject | arteriovenous malformation | en_US |
dc.subject | article | en_US |
dc.subject | autosomal disorder | en_US |
dc.subject | Bannayan Riley Ruvalcaba syndrome | en_US |
dc.subject | case report | en_US |
dc.subject | child | en_US |
dc.subject | codon | en_US |
dc.subject | colonoscopy | en_US |
dc.subject | congenital blood vessel malformation | en_US |
dc.subject | DNA sequence | en_US |
dc.subject | electroencephalogram | en_US |
dc.subject | electromyography | en_US |
dc.subject | excision | en_US |
dc.subject | exon | en_US |
dc.subject | face dysmorphia | en_US |
dc.subject | facial nerve paralysis | en_US |
dc.subject | female | en_US |
dc.subject | fluctuating asymmetry | en_US |
dc.subject | gait disorder | en_US |
dc.subject | gene mutation | en_US |
dc.subject | genotype phenotype correlation | en_US |
dc.subject | hamartoma | en_US |
dc.subject | hemangiomatosis | en_US |
dc.subject | histopathology | en_US |
dc.subject | human | en_US |
dc.subject | human tissue | en_US |
dc.subject | leg amputation | en_US |
dc.subject | leg pain | en_US |
dc.subject | macrocephaly | en_US |
dc.subject | medical history | en_US |
dc.subject | muscle atrophy | en_US |
dc.subject | muscle hemangiomatosis | en_US |
dc.subject | mutational analysis | en_US |
dc.subject | myopathy | en_US |
dc.subject | neuroimaging | en_US |
dc.subject | neurologic examination | en_US |
dc.subject | nonsense mutation | en_US |
dc.subject | nuclear magnetic resonance imaging | en_US |
dc.subject | recurrent disease | en_US |
dc.subject | school child | en_US |
dc.subject | seizure | en_US |
dc.subject | verruca vulgaris | en_US |
dc.title | Muscle Hemangiomatosis presenting as a severe feature in a patient with the pten mutation: Expanding the phenotype of vascular malformations in bannayan-riley-ruvalcaba syndrome | en_US |
dc.type | Article | en_US |
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