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These <jats:italic>NF1<\/jats:italic> microdeletions are subclassified into type 1, 2, 3 and atypical deletions which are distinguishable from each other by their extent and by the number of genes included within the deletion regions as well as the frequency of mosaicism with normal cells. Most common are type-1 <jats:italic>NF1<\/jats:italic> deletions which encompass 1.4-Mb and 14 protein-coding genes. Type-1 deletions are frequently associated with overgrowth, global developmental delay, cognitive disability and dysmorphic facial features which are uncommon in patients with intragenic pathogenic <jats:italic>NF1<\/jats:italic> gene variants. Further, patients with type-1 <jats:italic>NF1<\/jats:italic> deletions frequently exhibit high numbers of neurofibromas and have an increased risk of malignant peripheral nerve sheath tumours. Genes located within the type-1 <jats:italic>NF1<\/jats:italic> microdeletion interval and co-deleted with <jats:italic>NF1<\/jats:italic> are likely to act as modifiers responsible for the severe disease phenotype in patients with <jats:italic>NF1<\/jats:italic> microdeletions, thereby causing the <jats:italic>NF1<\/jats:italic> microdeletion syndrome. Genotype\/phenotype correlations in patients with <jats:italic>NF1<\/jats:italic> microdeletions of different lengths are important to identify such modifier genes. However, these correlations are critically dependent upon the accurate characterization of the deletions in terms of their extent. In this review, we outline the utility as well as the shortcomings of multiplex ligation-dependent probe amplification (MLPA) to classify the different types of <jats:italic>NF1<\/jats:italic> microdeletion and indicate the importance of high-resolution microarray analysis for correct classification, a necessary precondition to identify those genes responsible for the <jats:italic>NF1<\/jats:italic> microdeletion syndrome.<\/jats:p>","DOI":"10.1007\/s00439-021-02363-3","type":"journal-article","created":{"date-parts":[[2021,9,18]],"date-time":"2021-09-18T03:24:06Z","timestamp":1631935446000},"page":"1635-1649","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Classification of NF1 microdeletions and its importance for establishing genotype\/phenotype correlations in patients with NF1 microdeletions"],"prefix":"10.1007","volume":"140","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3398-5913","authenticated-orcid":false,"given":"Hildegard","family":"Kehrer-Sawatzki","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David N.","family":"Cooper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,9,18]]},"reference":[{"key":"2363_CR1","doi-asserted-by":"publisher","first-page":"742","DOI":"10.1002\/humu.21254","volume":"31","author":"K Bengesser","year":"2010","unstructured":"Bengesser K, Cooper DN, Steinmann K, Kluwe L, Chuzhanova NA, Wimmer K, Tatagiba M, Tinschert S, Mautner VF, Kehrer-Sawatzki H (2010) A novel third type of recurrent NF1 microdeletion mediated by nonallelic homologous recombination between LRRC37B-containing low-copy repeats in 17q11.2. 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