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


Soysal Y., Acun T., Lourenco C. M. , Marques W., Yakicier M. C.

BALKAN JOURNAL OF MEDICAL GENETICS, vol.15, no.1, pp.45-50, 2012 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 15 Issue: 1
  • Publication Date: 2012
  • Doi Number: 10.2478/v10034-012-0007-x
  • Title of Journal : BALKAN JOURNAL OF MEDICAL GENETICS
  • Page Numbers: pp.45-50

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.