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

INTRODUCTION

Bannayan-Riley-Ruvalcaba Syndrome (BRRS; Online Mendelian Inheritance in Man data base, OMIM 153480) is a rare autosomal, dominantlyinherited, congenital disorder characterized by macrocephaly, lipomatosis, hemangiomatosis, hamartomatous growths, central nervous system abnormalities, genital lentiginosis, intestinal polyposis, vascular malformations, and, less commonly, mental retardation [1-3]. Common facial presentations in BRRS patients include frontal bossing, down-slanting palpebral fi ssures, strabismus hypertelorism, a depressed nasal bridge, long philtrum, epicanthus inversus, a thin upper lip, a broad mouth and relative micrognathia [4,5]. Hypothonia, delayed psychomotor development, and seizures are also observed in at least half of BRRS patients [2]. Additionally, ocular abnormalities, lipid storage myopathy, and skeletal system abnormalities such as pectus excavatum, joint hyperextensibility and scoliosis are common manifestations of the syndrome [5]. Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome (CS; MIM 158350) are two hamartoma syndromes that sometimes show clinical overlap. Thus, at least a subset of BRRS and CS may be allelic. Approximately 60% of patients with BRRS have an identifi able germline mutation in PTEN (OMIM 601728), which is a tumor suppressor gene located on chromosome 10 (10q23) [6,7]. The PTEN gene has nine exons that encode a protein of 403 amino acids, and is also known as MMAC1 (mutated in multiple advanced cancers) or TEP1 (TGF-regulated and epithelial cell-enriched phosphatase) [8]. It has been suggested that syndromes characterized by the presence of germline PTEN mutations might be referred to as PTEN hamartoma tumor syndromes (PHTS). In the present study, we have performed PTEN mutation analysis in a patient with BRRS. We found a de novo nonsense R335X (c.1003C>T) mutation that is rarely reported in the literature for BRRS patients. Furthermore, we attempted to discuss the clinical features of BRRS which should prompt clinicians to test for a PTEN mutation.

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