LETTER TO JMG

Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations

E Petek¹, D E Jenne², J Smolle³, B Binder³, W Lasinger², C Windpassinger¹, K Wagner¹, P M Kroisel¹, H Kehrer-Sawatzki⁴

¹ Institute of Medical Biology and Human Genetics, University of Graz, Austria
² Max-Planck-Institute of Neurobiology, Department of Neuroimmunology, Martinsried, Germany
³ Department of Dermatology, University of Graz, Austria
⁴ Department of Human Genetics, University of Ulm, Ulm, Germany

Correspondence to:
Correspondence to:
Dr H Kehrer-Sawatzki, Department of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081 Ulm, Germany;
hildegard.kehrer-sawatzki@medizin.uni-ulm.de

Keywords: KIAA0160 gene; LCRs at 17q11.2; NF1 microdeletion; gonadosomic mosaicism

The first 150 words of the full text of this article appear below.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with an estimated birth incidence of 1 in 2500 and marked variability of expression. The hallmark symptoms of the fully manifested disease encountered in nearly all patients are cutaneous neurofibromas, café au lait spots, axillary freckling, and Lisch nodules. Other common manifestations are bone dysplasias, scoliosis, vasculopathy, and learning disabilities. NF1 patients also suffer from an increased risk of specific tumour types like plexiform neurofibromas, neurofibrosarcomas, optic gliomas, other CNS tumours, phaeochromocytomas, juvenile xanthogranuloma, and juvenile myeloid leukaemia. Mutations of the NF1 gene at 17q11.2 encoding neurofibromin are the molecular basis of the disease. Neurofibromin contains a GTPase activating domain and is a negative regulator of Ras GTPases. Homozygous inactivation of neurofibromin is associated with a dysregulation of Ras mediated signalling pathways and tumorigenesis in NF1 patients.¹ More than 70% of the germline mutations are protein truncating and are distributed throughout . . . [Full text of this article]

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