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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RESULTS
A nonsense R335X (c.1003C>T) mutation was
identifi ed in exon 8 that resulted in a premature
termination codon (Figure 1). The mutation was
confi rmed with the second sequencing reaction and
another round of mutation screening procedures.
Sequencing analysis of PTEN exon 8 in the patient’s
parents failed to reveal any alteration.
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