Balkan Journal of Medical Genetics

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, Lourenço CM, Marques W Jr, Yakıcıer MC
*Corresponding Author: Assistant Professor Yasemin Soysal, Department of Medical Genetics, Afyon Kocatepe University, Faculty of Medicine, Ali Çetinkaya Kampüsü, Afyonkarahisar, 03100, Turkey; Tel.: +90-5423463576; Fax: +90-2722463300; E-mail: yasemin_soysal@yahoo.com
page: 45
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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 identifi ed 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 fi ndings of BRRS. We described an 8-year-old girl with the clinical features of BRRS, specifi cally with vascular anomalies. The mutation in the PTEN gene was identifi ed by DNA sequencing. In our patient, we defi ned 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.

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