PMID: 9643287Jun 27, 1998Paper

Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1

Journal of Medical Genetics
S A RasmussenM R Wallace

Abstract

A set of neurofibromatosis type 1 (NF1) patients was screened for large NF1 gene deletions by comparing patient and parent genotypes at 10 intragenic polymorphic loci. Of 67 patient/parent sets (47 new mutation patients and 20 familial cases), five (7.5%) showed loss of heterozygosity (LOH), indicative of NF1 gene deletion. These five patients did not have severe NF1 manifestations, mental retardation, or dysmorphic features, in contrast to previous reports of large NF1 deletions. All five deletions were de novo and occurred on the maternal chromosome. However, two patients showed partial LOH, consistent with somatic mosaicism for the deletion, suggesting that mosaicism may be more frequent in NF1 than previously recognised (and may have bearing on clinical severity). We suggest that large NF1 deletions (1) are not always associated with unusual clinical features, (2) tend to occur more frequently on maternal alleles, and (3) are an important mechanism for constitutional and somatic mutations in NF1 patients.

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Citations

Jul 20, 2007·Journal of Genetic Counseling·Heather B RadtkeGretchen Schneider
Jul 27, 2002·Annual Review of Genomics and Human Genetics·Ken Inoue, James R Lupski
Mar 13, 2014·Familial Cancer·Erin E Salo-MullenZsofia K Stadler
Feb 12, 2008·American Journal of Medical Genetics. Part a·Hildegard Kehrer-SawatzkiVictor-Felix Mautner
Jun 14, 2013·Annals of Human Genetics·Martina NemethovaAndrea Zatkova
Apr 25, 2000·American Journal of Human Genetics·C López CorreaE Legius
May 27, 2010·American Journal of Medical Genetics. Part a·Irene BottilloBruno Dallapiccola
Mar 28, 2003·American Journal of Human Genetics·T De RaedtE Legius
Jun 19, 2001·American Journal of Human Genetics·M LeuerK Olek
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Nov 15, 2000·American Journal of Medical Genetics·A E LinJ M Friedman
Sep 19, 2007·Laboratory Investigation; a Journal of Technical Methods and Pathology·George Q PerrinDavid Muir
Jan 24, 2008·European Journal of Human Genetics : EJHG·Katharina SteinmannHildegard Kehrer-Sawatzki
Oct 26, 2005·Human Molecular Genetics·Lisenka E L M VissersHan G Brunner
Dec 23, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kimberly Jett, Jan M Friedman
Jun 14, 2020·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Hildegard Kehrer-SawatzkiVictor-Felix Mautner
Oct 9, 2004·American Journal of Medical Genetics. Part a·M J DescheemaekerE Legius
Feb 19, 2017·Human Genetics·Hildegard Kehrer-SawatzkiDavid N Cooper

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