LETTER TO JMG

Mental retardation and cardiovascular malformations in NF1 microdeleted patients point to candidate genes in 17q11.2

M Venturin^1,*, P Guarnieri^1,*, F Natacci², M Stabile³, R Tenconi⁴, M Clementi⁴, C Hernandez⁵, P Thompson⁶, M Upadhyaya⁶, L Larizza¹, P Riva¹

¹ Department of Biology and Genetics, Medical Faculty, University of Milan, Italy
² Medical Genetics Service, Istituti Clinici di Perfezionamento, Milan
³ Medical Genetics Service, Cardarelli Hospital, Naples, Italy
⁴ Clinical Genetics and Epidemiology Unit, Department of Paediatrics, University of Padua, Italy
⁵ Molecular Genetics Unit, Hospital Ramon y Cajal, Madrid, Spain
⁶ Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK

Correspondence to:
Correspondence to:
Professor Paola Riva
Department of Biology and Genetics, Medical Faculty, University of Milan, Italy; paola.riva@unimi.it

Received 22 September 2003

Accepted 2 November 2003

Abbreviations: DSM-IV, Diagnostic and Statistical Manual of Mental Diseases, fourth edition; FISH, fluorescent in situ hybridisation; MPNST, malignant peripheral nerve sheath tumour; NF1, neurofibromatosis type 1

Keywords: NF1 microdeletion syndrome; mental retardation; cardiovascular malformation; candidate genes

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

Neurofibromatosis type 1 (NF1 [MIM 162200]) is a common autosomal dominant disorder that affects 1/3500 individuals and is caused by deletion or point mutations of NF1, a tumour suppressor gene mapping to 17q11.2. Its main features include café au lait spots, axillary and inguinal freckling, iris Lisch nodules, neurofibromas, and an increased risk of benign and malignant tumours, particularly optic glioma, neurofibrosarcoma, malignant peripheral nerve sheath tumours (MPNSTs),¹ and childhood myeloid leukaemia.²

Over 70% of NF1 germline mutations cause truncation or loss of the encoded protein.

Approximately 5–20% of all NF1 patients carry a heterozygous deletion of usually 1.5 Mb involving the NF1 gene and contiguous genes lying in its flanking regions,^3,4 which is caused by unequal homologous recombination of NF1 repeats (REPs).⁵ Known as the "NF1 microdeletion syndrome," this condition is often characterised by a more severe phenotype than is observed in the general NF1 group. . . . [Full text of this article]

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