{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T16:34:11Z","timestamp":1779122051096,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,3,17]],"date-time":"2021-03-17T00:00:00Z","timestamp":1615939200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Trichothiodystrophy is a group of multisystem neuroectodermal disorders with dysplastic hair as the cardinal symptom. We describe three patients from two Finnish families in whom whole\u2010exome sequencing revealed a novel homozygous variant, c.26del, p.(Pro9Glnfs*144) in the <jats:italic>MPLKIP<\/jats:italic>\u2010gene, confirming the diagnosis of non\u2010photosensitive trichothiodystrophy type 4 (TTD4). The variant was confirmed by Sanger sequencing and inherited from unaffected carrier parents. This report adds to the literature by expanding the genetic and phenotypic spectra of <jats:italic>MPLKIP<\/jats:italic>\u2010related trichothiodystrophy. We describe dysmorphic features in the patients and provide a comparison of clinical characteristics in patients with TTD4 reported to date.<\/jats:p>","DOI":"10.1002\/ajmg.a.62168","type":"journal-article","created":{"date-parts":[[2021,3,17]],"date-time":"2021-03-17T13:03:11Z","timestamp":1615986191000},"page":"1875-1882","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A novel <scp><i>MPLKIP<\/i><\/scp>\u2010variant in three Finnish patients with non\u2010photosensitive trichothiodystrophy type 4"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8594-2077","authenticated-orcid":false,"given":"Sonja","family":"Strang\u2010Karlsson","sequence":"first","affiliation":[{"name":"The Folkhaelsan Department of Medical Genetics  Helsinki Finland"},{"name":"Department of Clinical Genetics University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria","family":"von Willebrand","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristiina","family":"Avela","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University of Helsinki and Helsinki University Hospital  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carina","family":"Wallgren\u2010Pettersson","sequence":"additional","affiliation":[{"name":"The Folkhaelsan Department of Medical Genetics, The Folkhaelsan Institute of Genetics and the Department of Medical and Clinical Genetics, Medicum University of Helsinki  Helsinki Finland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,3,17]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/MPG.0000000000000458"},{"issue":"5","key":"e_1_2_9_3_1","first-page":"514","article-title":"The physicochemical properties of hair in the BIDS syndrome","volume":"28","author":"Baden H. P.","year":"1976","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20419"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.2014.440"},{"issue":"2","key":"e_1_2_9_6_1","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1542\/peds.54.2.201","article-title":"\"Brittle\" hair with short stature, intellectual impairment and decreased fertility: An autosomal recessive syndrome in an Amish kindred","volume":"54","author":"Jackson C. E.","year":"1974","journal-title":"Pediatrics"},{"issue":"1","key":"e_1_2_9_7_1","first-page":"113","article-title":"Clinical and molecular findings of seven Turkish nonphotosensitive trichothiodystrophy patients with two novel mutations in MPLKIP. Abstracts from the 50th European Society of Human Genetics Conference: Posters","volume":"26","author":"Kalayci T.","year":"2019","journal-title":"European Journal of Human Genetics"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.02.004"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaad.2004.09.013"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/428141"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61794"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.10.012"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.43.228.211"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350424"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1177\/088307389200700311"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-016-0275-5"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mgene.2014.08.001"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.06.017"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.146"},{"issue":"3","key":"e_1_2_9_21_1","first-page":"506","article-title":"The age of human mutation: Genealocigal and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population","volume":"58","author":"Varilo T.","year":"1996","journal-title":"American Journal of Human Genetics"},{"key":"e_1_2_9_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-007-6501-8"},{"key":"e_1_2_9_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-018-0723-5"}],"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.62168","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62168","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62168","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T14:10:40Z","timestamp":1693577440000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62168"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,17]]},"references-count":22,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10.1002\/ajmg.a.62168"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62168","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,17]]},"assertion":[{"value":"2020-11-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-26","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-17","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}