Balkan Journal of Medical Genetics

CASE REPORT FOR TWO SIBLINGS CARRYING NEUROFIBROMATOSIS TYPE 1 WITH A RARE NF1: c.5392C>T MUTATION
Sayın Kocakap DB, Gündüz Ö, Özer L, Durak M
*Corresponding Author: Associate Professor Derya B. Sayın Kocakap, Kırıkkale Üniversitesi Tıp Fakültesi Tıbbi Genetik AD, Ankara Yolu 7.km, 71450, Kırıkkale, Turkey. Tel.: +90-318-357-3300/5784. Fax: +90-318-225-2819. E-mail: dsayin@yahoo.com
page: 99

INTRODUCTION

Neurofibromatosis type 1 (NF1) is a neurocutaneous genetic disorder with a well-established autosomal dominant inheritance pattern and characterized by multiple café au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, choroidal freckling and iris Lisch nodules. While osteopenia, osteoporosis and scoliosis are major skeletal features, dsyplasia of the long bones, especially tibia and fibula, is a rare but distinctive feature of NF1. Vascular system involvement of NF1 can cause renal artery stenosis, coarctation of the aorta, or other vascular lesions associated with hypertension. Most NF1 patients have normal intellectual functioning but learning disabilities, behavioral problems, and features of autism spectrum disorder can be seen [1]. While NF1 has a high penetrance, it is characterized by highly variable clinical expressivity. In some patients, skeletal changes and benign tumors of the neurocutaneous system with malignant potential are the cause of morbidity and mortality, while other patients present only with café au lait spots. Its incidence is approximately 1/2600-3000 individuals [2,3]. Approximately half of the cases are familial. Although there is no clear genotype- phenotype correlation, the severity of the phenotype is thought to be correlated with the reading frame truncation degree [4]. Neurofibromatosis type 1 is caused by mutations on the NF1 gene, located at chromosome 17q11.2. Neurofibromin is widely expressed in a variety of tissues, including the brain, kidney, spleen, thymus, functioning as tumor suppressor by inhibiting the activity of the RAS gene [5], regulating cell proliferation, survival and growth.

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