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Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

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Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. / Kluwe, Lan; Siebert, Reiner; Gesk, Stefan; Friedrich, Reinhard E; Tinschert, Sigrid; Kehrer-Sawatzki, Hildegard; Mautner, Victor-F.

In: HUM MUTAT, Vol. 23, No. 2, 01.02.2004, p. 111-6.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Kluwe, L, Siebert, R, Gesk, S, Friedrich, RE, Tinschert, S, Kehrer-Sawatzki, H & Mautner, V-F 2004, 'Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene', HUM MUTAT, vol. 23, no. 2, pp. 111-6. https://doi.org/10.1002/humu.10299

APA

Kluwe, L., Siebert, R., Gesk, S., Friedrich, R. E., Tinschert, S., Kehrer-Sawatzki, H., & Mautner, V-F. (2004). Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. HUM MUTAT, 23(2), 111-6. https://doi.org/10.1002/humu.10299

Vancouver

Kluwe L, Siebert R, Gesk S, Friedrich RE, Tinschert S, Kehrer-Sawatzki H et al. Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene. HUM MUTAT. 2004 Feb 1;23(2):111-6. https://doi.org/10.1002/humu.10299

Bibtex

@article{675c4eb9377d4eb8ac7b3295b67f5f40,
title = "Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene",
abstract = "A total of 500 unselected unrelated neurofibromatosis 1 (NF1) patients were screened for deletions of the NF1 gene. After excluding 67 patients with known intragenic NF1 mutations, the remaining 433 were genotyped using six intragenic and one distal microsatellite marker for the NF1 gene. A total of 28 patients were hemi- or homozygous for all seven markers and were thus considered as candidates for NF1 deletion with a calculated probability of 99.99%. Metaphase or interphase cells were available from 23 of these 28 individuals for molecular cytogenetics. Fluorescence in situ hybridization (FISH) confirmed an NF1 deletion in 22 (96%) of the 23 patients. Thus, a constitutional deletion of the NF1 gene is responsible for the disease phenotype in at least 4.4% of the 500 unselected NF1 patients. Genotyping using multiple microsatellite markers may provide a simple, inexpensive, and efficient strategy for screening deletions of the NF1 gene, and can as well be applied for other large genes.",
keywords = "Female, Gene Deletion, Genes, Neurofibromatosis 1, Genetic Testing, Humans, Male, Neurofibromatosis 1, Neurofibromin 1, Sex Distribution",
author = "Lan Kluwe and Reiner Siebert and Stefan Gesk and Friedrich, {Reinhard E} and Sigrid Tinschert and Hildegard Kehrer-Sawatzki and Victor-F Mautner",
note = "Copyright 2004 Wiley-Liss, Inc.",
year = "2004",
month = feb,
day = "1",
doi = "10.1002/humu.10299",
language = "English",
volume = "23",
pages = "111--6",
journal = "HUM MUTAT",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "2",

}

RIS

TY - JOUR

T1 - Screening 500 unselected neurofibromatosis 1 patients for deletions of the NF1 gene

AU - Kluwe, Lan

AU - Siebert, Reiner

AU - Gesk, Stefan

AU - Friedrich, Reinhard E

AU - Tinschert, Sigrid

AU - Kehrer-Sawatzki, Hildegard

AU - Mautner, Victor-F

N1 - Copyright 2004 Wiley-Liss, Inc.

PY - 2004/2/1

Y1 - 2004/2/1

N2 - A total of 500 unselected unrelated neurofibromatosis 1 (NF1) patients were screened for deletions of the NF1 gene. After excluding 67 patients with known intragenic NF1 mutations, the remaining 433 were genotyped using six intragenic and one distal microsatellite marker for the NF1 gene. A total of 28 patients were hemi- or homozygous for all seven markers and were thus considered as candidates for NF1 deletion with a calculated probability of 99.99%. Metaphase or interphase cells were available from 23 of these 28 individuals for molecular cytogenetics. Fluorescence in situ hybridization (FISH) confirmed an NF1 deletion in 22 (96%) of the 23 patients. Thus, a constitutional deletion of the NF1 gene is responsible for the disease phenotype in at least 4.4% of the 500 unselected NF1 patients. Genotyping using multiple microsatellite markers may provide a simple, inexpensive, and efficient strategy for screening deletions of the NF1 gene, and can as well be applied for other large genes.

AB - A total of 500 unselected unrelated neurofibromatosis 1 (NF1) patients were screened for deletions of the NF1 gene. After excluding 67 patients with known intragenic NF1 mutations, the remaining 433 were genotyped using six intragenic and one distal microsatellite marker for the NF1 gene. A total of 28 patients were hemi- or homozygous for all seven markers and were thus considered as candidates for NF1 deletion with a calculated probability of 99.99%. Metaphase or interphase cells were available from 23 of these 28 individuals for molecular cytogenetics. Fluorescence in situ hybridization (FISH) confirmed an NF1 deletion in 22 (96%) of the 23 patients. Thus, a constitutional deletion of the NF1 gene is responsible for the disease phenotype in at least 4.4% of the 500 unselected NF1 patients. Genotyping using multiple microsatellite markers may provide a simple, inexpensive, and efficient strategy for screening deletions of the NF1 gene, and can as well be applied for other large genes.

KW - Female

KW - Gene Deletion

KW - Genes, Neurofibromatosis 1

KW - Genetic Testing

KW - Humans

KW - Male

KW - Neurofibromatosis 1

KW - Neurofibromin 1

KW - Sex Distribution

U2 - 10.1002/humu.10299

DO - 10.1002/humu.10299

M3 - SCORING: Journal article

C2 - 14722914

VL - 23

SP - 111

EP - 116

JO - HUM MUTAT

JF - HUM MUTAT

SN - 1059-7794

IS - 2

ER -