<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal, dominantly-inherited, hamartoma syndrome with distinct phenotypic features. Mutations in the <italic>PTEN</italic> 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 <italic>PTEN</italic> 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 <italic>PTEN</italic> gene was identified by DNA sequencing. In our patient, we defined a <italic>de novo</italic> 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 <italic>PTEN</italic> mutation analysis and special medical care.</p></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.

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

Department of Medical Genetics, Faculty of Medicine, Afyon Kocatepe University, Afyonkarahisar, Turkey

Department of Molecular Biology and Genetics, Bilkent University, Bilkent, Ankara, Turkey

Department of Biomedical Engineering, Zonguldak Karaelmas University, Zonguldak, Turkey

Neurogenetics Division, Clinics Hospital of Ribeirao Preto, Faculty of Medicine of Ribeirao Preto, University of São Paulo, São Paulo, Brazil

Department of Medical Biology and Genetics, Faculty of Medicine, Acıbadem University, Maltepe, Istanbul, Turkey

Balkan Journal of Medical Genetics

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal, dominantly-inherited, hamartoma syndrome with distinct phenotypic features. Mutations in the PTEN...

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

Publié en ligne: 20 juil. 2012

Pages: 45 - 50

DOI: https://doi.org/10.2478/v10034-012-0007-x

Mots clés
Bannayan - Riley - Ruvalcaba Syndrome (BRRS), Hemangioma, Macrocephaly, gene, Vascular anomalies

This content is open access.

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

Publié en ligne: 20 juil. 2012

Pages: 45 - 50

DOI: https://doi.org/10.2478/v10034-012-0007-x

Mots clésBannayan - Riley - Ruvalcaba Syndrome (BRRS), Hemangioma, Macrocephaly, gene, Vascular anomalies

This content is open access.

Mots clés
Bannayan - Riley - Ruvalcaba Syndrome (BRRS), Hemangioma, Macrocephaly, gene, Vascular anomalies