{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T13:30:37Z","timestamp":1782307837406,"version":"3.54.5"},"reference-count":17,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,11,8]],"date-time":"2019-11-08T00:00:00Z","timestamp":1573171200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,11,8]],"date-time":"2019-11-08T00:00:00Z","timestamp":1573171200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ital J Pediatr"],"published-print":{"date-parts":[[2019,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:sec>\n<jats:title>Background<\/jats:title>\n<jats:p>17q11.2 microdeletions, which include the neurofibromatosis type 1 (<jats:italic>NF1<\/jats:italic>) gene region, are responsible for the <jats:italic>NF1<\/jats:italic> microdeletion syndrome, observed in 4.2% of all NF1 patients. Large deletions of the <jats:italic>NF1<\/jats:italic> gene and its flanking regions are associated with a more severe NF1 phenotype than the NF1 general population.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Case presentation<\/jats:title>\n<jats:p>We hereby describe the clinical and molecular features of two girls (aged 2 and 4\u2009years, respectively), with non-mosaic atypical deletions. Patient 1 showed fifteen <jats:italic>caf\u00e9-au-lait<\/jats:italic> spots and axillary freckling, as well as a Lisch nodule in the left eye, strabismus, high-arched palate, malocclusion, severe kyphoscoliosis, bilateral calcaneovalgus foot, mild generalized hypotonia, hyperactivity and deficits of speech-related abilities. <jats:italic>NF1<\/jats:italic> genomic rearrangements through multiplex ligation-dependent probe amplification (MLPA) detected an heterozygous deletion of the whole <jats:italic>NF1<\/jats:italic> gene. Array comparative genomic hybridization (a-CGH) analysis defined a 17q11.2 deletion of about 1\u2009Mb (breakpoints at positions 29,124,299 and 30,151,654), which involved different genes (partially <jats:italic>CRLF3<\/jats:italic>, <jats:italic>ATAD5<\/jats:italic>, <jats:italic>TEFM<\/jats:italic>, <jats:italic>ADAP2<\/jats:italic>, <jats:italic>RNF135<\/jats:italic>, <jats:italic>OMG<\/jats:italic>, <jats:italic>EVI2B<\/jats:italic>, <jats:italic>EVI2A<\/jats:italic>, <jats:italic>RAB11FIP4<\/jats:italic>), including <jats:italic>NF1<\/jats:italic>. Patient 2 showed growth and developmental delay, supravalvular pulmonary stenosis, twenty-five <jats:italic>caf\u00e9-au-lait<\/jats:italic> spots, axillary freckling, craniofacial dysmorphic features, short neck with <jats:italic>pterygium<\/jats:italic>, limb abnormalities and <jats:italic>foci<\/jats:italic> of neural dysplasia on brain magnetic resonance imaging (MRI). MLPA detected an heterozygous deletion of <jats:italic>NF1<\/jats:italic>, which was detailed by a-CGH indicating the positions 29,124,299 and 30,326,958 as its breakpoints, and which included aside from the genes deleted in Patient 1 also <jats:italic>COPRS<\/jats:italic>, <jats:italic>UTP6<\/jats:italic> and partially <jats:italic>SUZ12<\/jats:italic>. Fluorescent in situ hybridization (FISH) analysis of the parents documented a de novo origin of the deletions in both cases.<\/jats:p>\n<\/jats:sec>\n<jats:sec>\n<jats:title>Conclusions<\/jats:title>\n<jats:p>The present report will likely provide further insights and a better characterization of <jats:italic>NF1<\/jats:italic> microdeletion syndrome.<\/jats:p>\n<\/jats:sec>","DOI":"10.1186\/s13052-019-0718-7","type":"journal-article","created":{"date-parts":[[2019,11,8]],"date-time":"2019-11-08T14:55:52Z","timestamp":1573224952000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["NF1 microdeletion syndrome: case report of two new patients"],"prefix":"10.1186","volume":"45","author":[{"given":"Gregorio","family":"Serra","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincenzo","family":"Antona","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Corsello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federico","family":"Zara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4727-1628","authenticated-orcid":false,"given":"Ettore","family":"Piro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raffaele","family":"Falsaperla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,11,8]]},"reference":[{"issue":"1","key":"718_CR1","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1186\/s13052-018-0483-z","volume":"44","author":"G Corsello","year":"2018","unstructured":"Corsello G, Antona V, Serra G, Zara F, Giambrone C, Lagalla L, Piccione M, Piro E. 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All procedures performed in this study were in accordance with the ethical standards of the institutional and\/or national research committee, and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"138"}}