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Genetic analyses of the NF1 gene in Turkish neurofibromatosis type I patients and definition of three novel variants

Genetic analyses of the NF1 gene in Turkish neurofibromatosis type I patients and definition of... AbstractNeurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence of pseudogenes makes it difficult to analyze. We aimed to report the results of 2 years of multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) for genetic diagnosis of NF1 applied at our genetic diagnosis center. The MLPA, semiconductor sequencing and Sanger sequencing were performed in genomic DNA samples from 24 unrelated patients and their affected family members referred to our center suspected of having NF1. In total, three novel and 12 known pathogenic variants and a whole gene deletion were determined. We suggest that next generation sequencing is a practical tool for genetic analysis of NF1. Deletion/duplication analysis with MLPA may also be helpful for patients clinically diagnosed to carry NF1 but do not have a detectable mutation in NGS. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Balkan Journal of Medical Genetics de Gruyter

Genetic analyses of the NF1 gene in Turkish neurofibromatosis type I patients and definition of three novel variants

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Publisher
de Gruyter
Copyright
© 2017 Ulusal SD, Gürkan H, Atlı E, Özal SA, Çiftdemir M, Tozkır H, Karal Y, Güçlü H, Eker D, Görker I
ISSN
1311-0160
eISSN
1311-0160
DOI
10.1515/bjmg-2017-0008
Publisher site
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Abstract

AbstractNeurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence of pseudogenes makes it difficult to analyze. We aimed to report the results of 2 years of multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) for genetic diagnosis of NF1 applied at our genetic diagnosis center. The MLPA, semiconductor sequencing and Sanger sequencing were performed in genomic DNA samples from 24 unrelated patients and their affected family members referred to our center suspected of having NF1. In total, three novel and 12 known pathogenic variants and a whole gene deletion were determined. We suggest that next generation sequencing is a practical tool for genetic analysis of NF1. Deletion/duplication analysis with MLPA may also be helpful for patients clinically diagnosed to carry NF1 but do not have a detectable mutation in NGS.

Journal

Balkan Journal of Medical Genetics – de Gruyter

Published: Jun 1, 2017

Keywords: Genetic diagnosis; Neurofibromatosis type I (NF1); Next generation sequencing (NGS); multiplex ligation-dependent probe amplification (MLPA)

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