{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:21:23Z","timestamp":1747146083706,"version":"3.40.5"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,11,27]],"date-time":"2020-11-27T00:00:00Z","timestamp":1606435200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100003196","name":"Ministero della Salute","doi-asserted-by":"publisher","award":["GR\u20102013\u201002357821"],"award-info":[{"award-number":["GR\u20102013\u201002357821"]}],"id":[{"id":"10.13039\/501100003196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,2]]},"abstract":"Abstract<\/jats:title>Huntington disease (HD) is an autosomal dominant disease characterized by motor, behavioral, and cognitive symptoms, caused by the pathological expansion of more than 35 CAG\/CAA repeats in the HTT<\/jats:italic> gene. We describe the phenotype of a patient compatible with HD. Several family members were reported as affected, and a paternal cousin and his daughter carried 39 and 42 CAG\/CAA. HD genetic testing in proband showed homozygosity for a 14 CAG\/CAA allele. Considering the phenotype and family history, HTT<\/jats:italic> gene sequence was performed, revealing heterozygosity for the c.51C>G variant that changes the last nucleotide before the CAG tract, causing misannealing of forward primer (HD344) and dropout of the expanded allele. Polymerase chain reaction (PCR) analysis performed with an alternative forward primer demonstrated a 41 CAG\/CAA allele. The c.51C>G variant was not detected in the affected cousin, thus suggesting a de novo<\/jats:italic> occurrence. The lack of biological samples from the proband father and grandmother prevented further investigations to establish in which family member the variant occurred. These data indicate that patients presenting HD phenotype, and homozygous for a normal HTT<\/jats:italic> CAG\/CAA allele should be thoroughly evaluated for the presence of a genetic variant, even de novo, within the repeat region that may hamper genetic diagnosis.<\/jats:p>","DOI":"10.1002\/ajmg.a.61973","type":"journal-article","created":{"date-parts":[[2020,11,28]],"date-time":"2020-11-28T06:41:25Z","timestamp":1606545685000},"page":"397-400","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Missing the pathological expansion in Huntington disease: de novo<\/i> c.51C<\/scp>>G variant on the expanded allele causing intrafamilial allele dropout"],"prefix":"10.1002","volume":"185","author":[{"given":"Stefania","family":"Magri","sequence":"first","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1952-4539","authenticated-orcid":false,"given":"Lorenzo","family":"Nanetti","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessia","family":"Mongelli","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Rizzo","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Franco","family":"Taroni","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2405-3564","authenticated-orcid":false,"given":"Caterina","family":"Mariotti","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cinzia","family":"Gellera","sequence":"additional","affiliation":[{"name":"Unit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology Fondazione IRCCS Istituto Neurologico Carlo Besta Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,11,27]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.1.65"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ebiom.2019.09.020"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btz431"},{"key":"e_1_2_8_5_1","first-page":"475","article-title":"Errors in Huntington disease diagnostic test caused by trinucleotide deletion in the IT15 gene","volume":"59","author":"Gellera C.","year":"1996","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.10.1911"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.32618"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318249f683"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/302209"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2018.04.044"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1089\/109065700316480"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61973","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61973","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61973","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,17]],"date-time":"2023-08-17T01:22:08Z","timestamp":1692235328000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61973"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11,27]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,2]]}},"alternative-id":["10.1002\/ajmg.a.61973"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61973","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2020,11,27]]},"assertion":[{"value":"2020-07-31","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-10-25","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2020-11-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}