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

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Abstract
The 60 year old female investigated in this study (II.2, fig 1) has four café au lait spots on her thighs and forearms. Some minor freckling was found in the left axilla, but she did not have dermal neurofibromas or Lisch nodules. Her two sons, however, suffer from a severe form of NF1 (patients III.1 and III.2). In early childhood, they had multiple café au lait spots distributed all over the body and noticeably large hands and feet. In the younger brother, retarded psychomotor development was documented. Later in life, coarse facial features with hypertelorism were noticed, in addition to macrocephaly, axillary freckling, mild scoliosis, and multiple neurofibromas, which were too numerous to count. Multiple melanocytic naevi and low set nipples were additional features. The intelligence quotient of the sons was judged by their mother as normal, but was specifically tested only in her oldest son and was found to be in the normal range. Both attended regular school. Patient III.1 suffered from a malignant glandular schwannoma in the left gluteus which metastasised. At the age of 29 years, he died from intracranial bleeding before genetic investigations were started. His younger brother, patient III.2, who is still alive, had sphenoid wing dysplasia. At the age of 11 years, progressive dislocation of his hips and genu valgum were diagnosed, which had to be surgically corrected several times.

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