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
Author
Soysal, Y.
Acun, T.
Lourenço, C.M.
Marques Jr. W.
Yakicier, M.C.
Date
2012Source Title
Balkan Journal of Medical Genetics
Print ISSN
13110160
Volume
15
Issue
1
Pages
45 - 50
Language
English
Type
ArticleItem Usage Stats
137
views
views
86
downloads
downloads
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.
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