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

Date
2012
Authors
Soysal, Y.
Acun, T.
Lourenço, C.M.
Marques Jr. W.
Yakicier, M.C.
Advisor
Supervisor
Co-Advisor
Co-Supervisor
Instructor
Source Title
Balkan Journal of Medical Genetics
Print ISSN
13110160
Electronic ISSN
Publisher
Volume
15
Issue
1
Pages
45 - 50
Language
English
Type
Article
Journal Title
Journal ISSN
Volume Title
Series
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.

Course
Other identifiers
Book Title
Keywords
Bannayan - Riley - Ruvalcaba Syndrome (BRRS), Hemangioma, Macrocephaly, PTEN gene, Vascular anomalies, DNA, phosphatidylinositol 3,4,5 trisphosphate 3 phosphatase, angiolipoma, angiomyolipoma, arteriovenous malformation, article, autosomal disorder, Bannayan Riley Ruvalcaba syndrome, case report, child, codon, colonoscopy, congenital blood vessel malformation, DNA sequence, electroencephalogram, electromyography, excision, exon, face dysmorphia, facial nerve paralysis, female, fluctuating asymmetry, gait disorder, gene mutation, genotype phenotype correlation, hamartoma, hemangiomatosis, histopathology, human, human tissue, leg amputation, leg pain, macrocephaly, medical history, muscle atrophy, muscle hemangiomatosis, mutational analysis, myopathy, neuroimaging, neurologic examination, nonsense mutation, nuclear magnetic resonance imaging, recurrent disease, school child, seizure, verruca vulgaris
Citation
Published Version (Please cite this version)