Neurofibromatosis type I: mutation spectrum of NF1 in spanish patients

Annals of Human Genetics
Carmen Palma MillaJuan López Siles

Abstract

Neurofibromatosis type I (NF1) is one of the most common genetic disorders in humans. NF1, a tumor predisposition syndrome, is caused by heterozygous pathogenic variants in the NF1 gene. Molecular genetic testing of NF1 is complex, especially because of the presence of a high number of partial pseudogenes, some of them with a high percentage of sequence identity. In this study, we have analyzed the largest cohort of NF1 Spanish patients (150 unrelated individuals suspected of having NF1 and 53 relatives, making a total of 203 individuals). Mutation analysis of the entire coding region was performed in all unrelated index patients. Additionally, the Multiplex Ligation-dependent Probe Amplification (MLPA) test of the NF1 gene and SPRED1 gene analysis (sequencing and MLPA test) was performed in some of the negative patients for NF1 point mutations. When fulfilling the National Institutes of Health (NIH) criterion for the clinical diagnosis of NF1, the detection rate was 79%. Among the 80 genetically confirmed NF1 probands, we detected 69 different pathogenic variants. Two mutations (3%) were gross deletions of the whole gene, the remaining 78 mutations (97%) were small changes spread among all NF1 exons. Among these 69 different m...Continue Reading

References

Jun 1, 1995·Human Molecular Genetics·R A HeimM C Luce
Jan 1, 1993·American Journal of Medical Genetics·J M FriedmanC Greene
Jan 1, 1997·Human Mutation·M UpadhyayaP S Harper
Jan 7, 2000·American Journal of Epidemiology·S A Rasmussen, J M Friedman
Mar 22, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·L M MessiaenM R Wallace
Sep 22, 2001·Journal of Medical Genetics·M BahuauD Lacombe
Jan 19, 2005·Archives of Dermatology·Marga LammertVictor F Mautner
Feb 8, 2006·Human Molecular Genetics·Ophélia MaertensEric Legius
Sep 1, 2006·Familial Cancer·Siân GriffithsMeena Upadhyaya
May 20, 2008·Human Mutation·Meena UpadhyayaVictor Mautner
Jun 14, 2008·Journal of Medical Genetics·E DenayerE Legius
Apr 3, 2009·Nucleic Acids Research·François-Olivier DesmetChristophe Béroud
May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Jul 30, 2009·European Journal of Human Genetics : EJHG·Sabrina TitzeAnja Harder
Dec 23, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kimberly Jett, Jan M Friedman
Jan 19, 2010·American Journal of Medical Genetics. Part a·D G EvansF Lalloo
Jun 1, 2010·Human Mutation·Eric PasmantUNKNOWN members of the NF France Network
Aug 16, 2011·Hereditary Cancer in Clinical Practice·Giovanni PontiStefania Seidenari
Nov 24, 2011·European Journal of Human Genetics : EJHG·Laura ThomasMeena Upadhyaya
Dec 14, 2011·Human Genomics·Sebastian Laycock-van SpykMeena Upadhyaya
Aug 15, 2012·Journal of Medical Genetics·Eric PasmantPierre Wolkenstein
Apr 1, 2014·Nature Methods·Jana Marie SchwarzDominik Seelow
May 8, 2014·Molecular Systems Biology·Christina Kiel, Luis Serrano
Jan 28, 2015·Middle East African Journal of Ophthalmology·Vasudha GuptaVirginia Viscardi
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Nov 20, 2015·Nucleic Acids Research·Melissa J LandrumDonna R Maglott
Jan 8, 2016·Molecular Genetics & Genomic Medicine·Donatella BianchessiMarica Eoli

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Citations

Jan 15, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Filiz HazanAjlan Tükün
Jun 6, 2021·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Qin DuHongyu Zhou

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